dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1801133
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:11796321 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.340158 (126753/372630, ALFA)A=0.291243 (77089/264690, TOPMED)A=0.314859 (79177/251468, GnomAD_exome) (+ 26 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MTHFR : Missense Variant
- Publications
- 892 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 388968 | G=0.663250 | A=0.336750 |
| European | Sub | 332384 | G=0.651572 | A=0.348428 |
| African | Sub | 16554 | G=0.88269 | A=0.11731 |
| African Others | Sub | 594 | G=0.928 | A=0.072 |
| African American | Sub | 15960 | G=0.88102 | A=0.11898 |
| Asian | Sub | 3984 | G=0.6614 | A=0.3386 |
| East Asian | Sub | 3184 | G=0.6137 | A=0.3863 |
| Other Asian | Sub | 800 | G=0.851 | A=0.149 |
| Latin American 1 | Sub | 1488 | G=0.7097 | A=0.2903 |
| Latin American 2 | Sub | 7238 | G=0.5473 | A=0.4527 |
| South Asian | Sub | 5226 | G=0.8326 | A=0.1674 |
| Other | Sub | 22094 | G=0.66968 | A=0.33032 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 372630 | G=0.659842 | A=0.340158 |
| Allele Frequency Aggregator | European | Sub | 322326 | G=0.650770 | A=0.349230 |
| Allele Frequency Aggregator | Other | Sub | 20648 | G=0.66883 | A=0.33117 |
| Allele Frequency Aggregator | African | Sub | 11720 | G=0.87918 | A=0.12082 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 7238 | G=0.5473 | A=0.4527 |
| Allele Frequency Aggregator | South Asian | Sub | 5226 | G=0.8326 | A=0.1674 |
| Allele Frequency Aggregator | Asian | Sub | 3984 | G=0.6614 | A=0.3386 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1488 | G=0.7097 | A=0.2903 |
| TopMed | Global | Study-wide | 264690 | G=0.708757 | A=0.291243 |
| gnomAD - Exomes | Global | Study-wide | 251468 | G=0.685141 | A=0.314859 |
| gnomAD - Exomes | European | Sub | 135392 | G=0.677810 | A=0.322190 |
| gnomAD - Exomes | Asian | Sub | 49010 | G=0.80033 | A=0.19967 |
| gnomAD - Exomes | American | Sub | 34592 | G=0.49728 | A=0.50272 |
| gnomAD - Exomes | African | Sub | 16256 | G=0.89241 | A=0.10759 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | G=0.54306 | A=0.45694 |
| gnomAD - Exomes | Other | Sub | 6138 | G=0.6703 | A=0.3297 |
| gnomAD - Genomes | Global | Study-wide | 140030 | G=0.725545 | A=0.274455 |
| gnomAD - Genomes | European | Sub | 75844 | G=0.67685 | A=0.32315 |
| gnomAD - Genomes | African | Sub | 41980 | G=0.88723 | A=0.11277 |
| gnomAD - Genomes | American | Sub | 13616 | G=0.55097 | A=0.44903 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.5391 | A=0.4609 |
| gnomAD - Genomes | East Asian | Sub | 3122 | G=0.7127 | A=0.2873 |
| gnomAD - Genomes | Other | Sub | 2146 | G=0.6985 | A=0.3015 |
| ExAC | Global | Study-wide | 121396 | G=0.696333 | A=0.303667 |
| ExAC | Europe | Sub | 73344 | G=0.66598 | A=0.33402 |
| ExAC | Asian | Sub | 25162 | G=0.80260 | A=0.19740 |
| ExAC | American | Sub | 11578 | G=0.48592 | A=0.51408 |
| ExAC | African | Sub | 10404 | G=0.88764 | A=0.11236 |
| ExAC | Other | Sub | 908 | G=0.694 | A=0.306 |
| The PAGE Study | Global | Study-wide | 78674 | G=0.73920 | A=0.26080 |
| The PAGE Study | AfricanAmerican | Sub | 32500 | G=0.88126 | A=0.11874 |
| The PAGE Study | Mexican | Sub | 10806 | G=0.52795 | A=0.47205 |
| The PAGE Study | Asian | Sub | 8318 | G=0.6366 | A=0.3634 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.6636 | A=0.3364 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | G=0.7807 | A=0.2193 |
| The PAGE Study | Cuban | Sub | 4228 | G=0.6705 | A=0.3295 |
| The PAGE Study | Dominican | Sub | 3824 | G=0.7513 | A=0.2487 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.4980 | A=0.5020 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.5838 | A=0.4162 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.7111 | A=0.2889 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.867 | A=0.133 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.60811 | A=0.39189 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.60800 | A=0.39200 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | G=0.72943 | A=0.27057 |
| GO Exome Sequencing Project | European American | Sub | 8600 | G=0.6531 | A=0.3469 |
| GO Exome Sequencing Project | African American | Sub | 4406 | G=0.8783 | A=0.1217 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.7537 | A=0.2463 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9115 | A=0.0885 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.6327 | A=0.3673 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.8744 | A=0.1256 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.7128 | A=0.2872 |
| 1000Genomes_30x | American | Sub | 980 | G=0.523 | A=0.477 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.7546 | A=0.2454 |
| 1000Genomes | African | Sub | 1322 | G=0.9100 | A=0.0900 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.7044 | A=0.2956 |
| 1000Genomes | Europe | Sub | 1006 | G=0.6352 | A=0.3648 |
| 1000Genomes | South Asian | Sub | 978 | G=0.881 | A=0.119 |
| 1000Genomes | American | Sub | 694 | G=0.526 | A=0.474 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.7069 | A=0.2931 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.6658 | A=0.3342 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.6699 | A=0.3301 |
| PharmGKB Aggregated | Global | Study-wide | 3386 | G=0.6858 | A=0.3142 |
| PharmGKB Aggregated | PA155830959 | Sub | 2308 | G=0.6841 | A=0.3159 |
| PharmGKB Aggregated | PA129695422 | Sub | 598 | G=0.711 | A=0.289 |
| PharmGKB Aggregated | PA142248866 | Sub | 480 | G=0.662 | A=0.338 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.5594 | A=0.4406, C=0.0000 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | G=0.7183 | A=0.2817 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.672 | A=0.328 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.790 | A=0.210 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.706 | A=0.294 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.591 | A=0.409 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.946 | A=0.054 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=0.579 | A=0.421 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.89 | A=0.11 |
| HapMap | Global | Study-wide | 1892 | G=0.7616 | A=0.2384 |
| HapMap | American | Sub | 770 | G=0.726 | A=0.274 |
| HapMap | African | Sub | 692 | G=0.912 | A=0.088 |
| HapMap | Asian | Sub | 254 | G=0.614 | A=0.386 |
| HapMap | Europe | Sub | 176 | G=0.540 | A=0.460 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.680 | A=0.320 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 746 | G=0.446 | A=0.554 |
| CNV burdens in cranial meningiomas | CRM | Sub | 746 | G=0.446 | A=0.554 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 612 | G=0.845 | A=0.155 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.663 | A=0.337 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.699 | A=0.301 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.760 | A=0.240 |
| SGDP_PRJ | Global | Study-wide | 226 | G=0.403 | A=0.597 |
| Qatari | Global | Study-wide | 216 | G=0.861 | A=0.139 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 76 | G=0.53 | A=0.47 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.85 | A=0.15 |
| Siberian | Global | Study-wide | 18 | G=0.39 | A=0.61 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.11796321G>A |
| GRCh38.p14 chr 1 | NC_000001.11:g.11796321G>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.11856378G>A |
| GRCh37.p13 chr 1 | NC_000001.10:g.11856378G>C |
| MTHFR RefSeqGene (LRG_726) | NG_013351.1:g.14783C>T |
| MTHFR RefSeqGene (LRG_726) | NG_013351.1:g.14783C>G |
Gene: MTHFR, methylenetetrahydrofolate reductase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MTHFR transcript variant 2 | NM_005957.5:c.665C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform 2 | NP_005948.3:p.Ala222Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant 2 | NM_005957.5:c.665C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform 2 | NP_005948.3:p.Ala222Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant 1 | NM_001330358.2:c.788C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform 1 | NP_001317287.1:p.Ala263Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant 1 | NM_001330358.2:c.788C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform 1 | NP_001317287.1:p.Ala263Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X1 | XM_011541495.4:c.785C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X1 | XP_011539797.1:p.Ala262Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X1 | XM_011541495.4:c.785C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase isoform X1 | XP_011539797.1:p.Ala262Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X1 | XM_011541496.4:c.788C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X1 | XP_011539798.1:p.Ala263Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X1 | XM_011541496.4:c.788C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X1 | XP_011539798.1:p.Ala263Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X2 | XM_047421174.1:c.785C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X2 | XP_047277130.1:p.Ala262Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X2 | XM_047421174.1:c.785C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X2 | XP_047277130.1:p.Ala262Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X3 | XM_005263462.5:c.665C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X3 | XP_005263519.1:p.Ala222Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X3 | XM_005263462.5:c.665C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X3 | XP_005263519.1:p.Ala222Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X4 | XM_047421178.1:c.665C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X3 | XP_047277134.1:p.Ala222Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X4 | XM_047421178.1:c.665C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X3 | XP_047277134.1:p.Ala222Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X5 | XM_017001328.3:c.788C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X4 | XP_016856817.1:p.Ala263Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X5 | XM_017001328.3:c.788C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X4 | XP_016856817.1:p.Ala263Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X6 | XM_047421179.1:c.665C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X5 | XP_047277135.1:p.Ala222Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X6 | XM_047421179.1:c.665C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X5 | XP_047277135.1:p.Ala222Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X7 | XM_047421180.1:c.665C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X6 | XP_047277136.1:p.Ala222Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X7 | XM_047421180.1:c.665C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X6 | XP_047277136.1:p.Ala222Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X8 | XM_047421181.1:c.665C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X6 | XP_047277137.1:p.Ala222Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X8 | XM_047421181.1:c.665C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X6 | XP_047277137.1:p.Ala222Gly | A (Ala) > G (Gly) | Missense Variant |
| MTHFR transcript variant X9 | XM_005263463.5:c.419C>T | A [GCC] > V [GTC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X7 | XP_005263520.1:p.Ala140Val | A (Ala) > V (Val) | Missense Variant |
| MTHFR transcript variant X9 | XM_005263463.5:c.419C>G | A [GCC] > G [GGC] | Coding Sequence Variant |
| methylenetetrahydrofolate reductase (NADPH) isoform X7 | XP_005263520.1:p.Ala140Gly | A (Ala) > G (Gly) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: A (allele ID:
18559
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000003697.10 | MTHFR THERMOLABILE POLYMORPHISM | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000144921.2 | Gastrointestinal stromal tumor | Uncertain-Significance |
| RCV000153516.16 | not provided | Uncertain-Significance,Other |
| RCV000259890.4 | Neural tube defects, folate-sensitive | Likely-Benign |
| RCV000427078.2 | Neoplasm of stomach | Not-Provided |
| RCV000428048.7 | not specified | Benign |
| RCV000761447.2 | Thrombophilia due to thrombin defect | Uncertain-Significance |
| RCV001030751.7 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | Conflicting-Interpretations-Of-Pathogenicity |
| RCV001276670.2 | Homocystinuria due to MTHFR deficiency | Benign |
| RCV001787367.2 | methotrexate response - Metabolism/PK | Drug-Response |
| RCV001847567.2 | methotrexate response - Toxicity | Drug-Response |
| RCV002227012.2 | Stroke | Uncertain-Significance |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | G= | A | C |
|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.11796321= | NC_000001.11:g.11796321G>A | NC_000001.11:g.11796321G>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.11856378= | NC_000001.10:g.11856378G>A | NC_000001.10:g.11856378G>C |
| MTHFR RefSeqGene (LRG_726) | NG_013351.1:g.14783= | NG_013351.1:g.14783C>T | NG_013351.1:g.14783C>G |
| MTHFR transcript variant 2 | NM_005957.5:c.665= | NM_005957.5:c.665C>T | NM_005957.5:c.665C>G |
| MTHFR transcript variant 2 | NM_005957.4:c.665= | NM_005957.4:c.665C>T | NM_005957.4:c.665C>G |
| MTHFR transcript variant 1 | NM_001330358.2:c.788= | NM_001330358.2:c.788C>T | NM_001330358.2:c.788C>G |
| MTHFR transcript variant 1 | NM_001330358.1:c.788= | NM_001330358.1:c.788C>T | NM_001330358.1:c.788C>G |
| MTHFR transcript variant 3 | NM_001410750.1:c.785= | NM_001410750.1:c.785C>T | NM_001410750.1:c.785C>G |
| MTHFR transcript variant X3 | XM_005263462.5:c.665= | XM_005263462.5:c.665C>T | XM_005263462.5:c.665C>G |
| MTHFR transcript variant X4 | XM_005263462.4:c.665= | XM_005263462.4:c.665C>T | XM_005263462.4:c.665C>G |
| MTHFR transcript variant X6 | XM_005263462.3:c.665= | XM_005263462.3:c.665C>T | XM_005263462.3:c.665C>G |
| MTHFR transcript variant X5 | XM_005263462.2:c.665= | XM_005263462.2:c.665C>T | XM_005263462.2:c.665C>G |
| MTHFR transcript variant X5 | XM_005263462.1:c.665= | XM_005263462.1:c.665C>T | XM_005263462.1:c.665C>G |
| MTHFR transcript variant X9 | XM_005263463.5:c.419= | XM_005263463.5:c.419C>T | XM_005263463.5:c.419C>G |
| MTHFR transcript variant X6 | XM_005263463.4:c.419= | XM_005263463.4:c.419C>T | XM_005263463.4:c.419C>G |
| MTHFR transcript variant X7 | XM_005263463.3:c.419= | XM_005263463.3:c.419C>T | XM_005263463.3:c.419C>G |
| MTHFR transcript variant X7 | XM_005263463.2:c.419= | XM_005263463.2:c.419C>T | XM_005263463.2:c.419C>G |
| MTHFR transcript variant X6 | XM_005263463.1:c.419= | XM_005263463.1:c.419C>T | XM_005263463.1:c.419C>G |
| MTHFR transcript variant X1 | XM_011541495.4:c.785= | XM_011541495.4:c.785C>T | XM_011541495.4:c.785C>G |
| MTHFR transcript variant X1 | XM_011541496.4:c.788= | XM_011541496.4:c.788C>T | XM_011541496.4:c.788C>G |
| MTHFR transcript variant X2 | XM_011541496.3:c.788= | XM_011541496.3:c.788C>T | XM_011541496.3:c.788C>G |
| MTHFR transcript variant X3 | XM_011541496.2:c.788= | XM_011541496.2:c.788C>T | XM_011541496.2:c.788C>G |
| MTHFR transcript variant X3 | XM_011541496.1:c.788= | XM_011541496.1:c.788C>T | XM_011541496.1:c.788C>G |
| MTHFR transcript variant X5 | XM_017001328.3:c.788= | XM_017001328.3:c.788C>T | XM_017001328.3:c.788C>G |
| MTHFR transcript variant X5 | XM_017001328.2:c.788= | XM_017001328.2:c.788C>T | XM_017001328.2:c.788C>G |
| MTHFR transcript variant X6 | XM_017001328.1:c.788= | XM_017001328.1:c.788C>T | XM_017001328.1:c.788C>G |
| MTHFR transcript variant X4 | XM_047421178.1:c.665= | XM_047421178.1:c.665C>T | XM_047421178.1:c.665C>G |
| MTHFR transcript variant X2 | XM_047421174.1:c.785= | XM_047421174.1:c.785C>T | XM_047421174.1:c.785C>G |
| MTHFR transcript variant X7 | XM_047421180.1:c.665= | XM_047421180.1:c.665C>T | XM_047421180.1:c.665C>G |
| MTHFR transcript variant X8 | XM_047421181.1:c.665= | XM_047421181.1:c.665C>T | XM_047421181.1:c.665C>G |
| MTHFR transcript variant X6 | XM_047421179.1:c.665= | XM_047421179.1:c.665C>T | XM_047421179.1:c.665C>G |
| methylenetetrahydrofolate reductase (NADPH) isoform 2 | NP_005948.3:p.Ala222= | NP_005948.3:p.Ala222Val | NP_005948.3:p.Ala222Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform 1 | NP_001317287.1:p.Ala263= | NP_001317287.1:p.Ala263Val | NP_001317287.1:p.Ala263Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X3 | XP_005263519.1:p.Ala222= | XP_005263519.1:p.Ala222Val | XP_005263519.1:p.Ala222Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X7 | XP_005263520.1:p.Ala140= | XP_005263520.1:p.Ala140Val | XP_005263520.1:p.Ala140Gly |
| methylenetetrahydrofolate reductase isoform X1 | XP_011539797.1:p.Ala262= | XP_011539797.1:p.Ala262Val | XP_011539797.1:p.Ala262Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X1 | XP_011539798.1:p.Ala263= | XP_011539798.1:p.Ala263Val | XP_011539798.1:p.Ala263Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X4 | XP_016856817.1:p.Ala263= | XP_016856817.1:p.Ala263Val | XP_016856817.1:p.Ala263Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X3 | XP_047277134.1:p.Ala222= | XP_047277134.1:p.Ala222Val | XP_047277134.1:p.Ala222Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X2 | XP_047277130.1:p.Ala262= | XP_047277130.1:p.Ala262Val | XP_047277130.1:p.Ala262Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X6 | XP_047277136.1:p.Ala222= | XP_047277136.1:p.Ala222Val | XP_047277136.1:p.Ala222Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X6 | XP_047277137.1:p.Ala222= | XP_047277137.1:p.Ala222Val | XP_047277137.1:p.Ala222Gly |
| methylenetetrahydrofolate reductase (NADPH) isoform X5 | XP_047277135.1:p.Ala222= | XP_047277135.1:p.Ala222Val | XP_047277135.1:p.Ala222Gly |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
200 SubSNP,
29 Frequency,
12 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2421346 | Nov 14, 2000 (89) |
| 2 | UWGC | ss2978066 | Apr 12, 2001 (94) |
| 3 | YUSUKE | ss3210929 | Sep 28, 2001 (100) |
| 4 | SNP500CANCER | ss5586780 | Jul 02, 2003 (116) |
| 5 | BCM_SSAHASNP | ss9880738 | Jul 11, 2003 (116) |
| 6 | CSHL-HAPMAP | ss19153859 | Feb 27, 2004 (120) |
| 7 | IMCJ-GDT | ss22887537 | Apr 05, 2004 (121) |
| 8 | PERLEGEN | ss23844687 | Sep 20, 2004 (123) |
| 9 | ABI | ss43851891 | Mar 13, 2006 (126) |
| 10 | APPLERA_GI | ss48422844 | Mar 13, 2006 (126) |
| 11 | ILLUMINA | ss65725885 | Oct 15, 2006 (127) |
| 12 | KRIBB_YJKIM | ss65837366 | Nov 30, 2006 (127) |
| 13 | AFFY | ss65978994 | Nov 30, 2006 (127) |
| 14 | ILLUMINA | ss66739040 | Nov 30, 2006 (127) |
| 15 | EGP_SNPS | ss66859409 | Nov 30, 2006 (127) |
| 16 | ILLUMINA | ss67197041 | Nov 30, 2006 (127) |
| 17 | ILLUMINA | ss67586038 | Nov 30, 2006 (127) |
| 18 | PERLEGEN | ss68758613 | May 17, 2007 (127) |
| 19 | PHARMGKB_PPII | ss69366957 | May 17, 2007 (127) |
| 20 | PHARMGKB_PAAR-SJCRH | ss69370488 | May 17, 2007 (127) |
| 21 | EGP_SNPS | ss70457102 | May 17, 2007 (127) |
| 22 | ILLUMINA | ss70675252 | May 25, 2008 (130) |
| 23 | ILLUMINA | ss71238266 | May 17, 2007 (127) |
| 24 | ILLUMINA | ss75689155 | Dec 06, 2007 (129) |
| 25 | CGM_KYOTO | ss76875007 | Dec 06, 2007 (129) |
| 26 | ILLUMINA | ss79094251 | Dec 15, 2007 (130) |
| 27 | KRIBB_YJKIM | ss83877584 | Dec 15, 2007 (130) |
| 28 | PHARMGKB_PPII | ss105110012 | Feb 05, 2009 (130) |
| 29 | BGI | ss105121487 | Dec 01, 2009 (131) |
| 30 | 1000GENOMES | ss107994602 | Jan 22, 2009 (130) |
| 31 | ILLUMINA | ss121814299 | Dec 01, 2009 (131) |
| 32 | ILLUMINA | ss153736623 | Dec 01, 2009 (131) |
| 33 | GMI | ss154641508 | Dec 01, 2009 (131) |
| 34 | ILLUMINA | ss159329789 | Dec 01, 2009 (131) |
| 35 | SEATTLESEQ | ss159696090 | Dec 01, 2009 (131) |
| 36 | ILLUMINA | ss160462980 | Dec 01, 2009 (131) |
| 37 | ENSEMBL | ss161162859 | Dec 01, 2009 (131) |
| 38 | COMPLETE_GENOMICS | ss166100327 | Jul 04, 2010 (132) |
| 39 | OMICIA | ss169652100 | Feb 08, 2013 (137) |
| 40 | ILLUMINA | ss170815596 | Jul 04, 2010 (132) |
| 41 | ILLUMINA | ss172925329 | Jul 04, 2010 (132) |
| 42 | PAGE_STUDY | ss181341879 | Jul 04, 2010 (132) |
| 43 | BUSHMAN | ss198024849 | Jul 04, 2010 (132) |
| 44 | BCM-HGSC-SUB | ss205382086 | Jul 04, 2010 (132) |
| 45 | ILLUMINA | ss209087071 | Jul 04, 2010 (132) |
| 46 | 1000GENOMES | ss218238438 | Jul 14, 2010 (132) |
| 47 | 1000GENOMES | ss230427635 | Jul 14, 2010 (132) |
| 48 | 1000GENOMES | ss238142821 | Jul 15, 2010 (132) |
| 49 | ILLUMINA | ss244285108 | Jul 04, 2010 (132) |
| 50 | GMI | ss275715273 | May 04, 2012 (137) |
| 51 | GMI | ss284001291 | Apr 25, 2013 (138) |
| 52 | PJP | ss290623951 | May 09, 2011 (134) |
| 53 | NHLBI-ESP | ss341933225 | May 09, 2011 (134) |
| 54 | ILLUMINA | ss410765851 | Sep 17, 2011 (135) |
| 55 | PAGE_STUDY | ss469414424 | May 04, 2012 (137) |
| 56 | ILLUMINA | ss480300864 | May 04, 2012 (137) |
| 57 | ILLUMINA | ss480311975 | May 04, 2012 (137) |
| 58 | ILLUMINA | ss481067715 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss484948244 | May 04, 2012 (137) |
| 60 | 1000GENOMES | ss489721011 | May 04, 2012 (137) |
| 61 | EXOME_CHIP | ss491286272 | May 04, 2012 (137) |
| 62 | CLINSEQ_SNP | ss491584594 | May 04, 2012 (137) |
| 63 | ILLUMINA | ss536992426 | Sep 08, 2015 (146) |
| 64 | TISHKOFF | ss553801715 | Apr 25, 2013 (138) |
| 65 | SSMP | ss647577765 | Apr 25, 2013 (138) |
| 66 | ILLUMINA | ss778467812 | Aug 21, 2014 (142) |
| 67 | ILLUMINA | ss780753537 | Sep 08, 2015 (146) |
| 68 | ILLUMINA | ss782920430 | Aug 21, 2014 (142) |
| 69 | ILLUMINA | ss783431777 | Sep 08, 2015 (146) |
| 70 | ILLUMINA | ss783883460 | Aug 21, 2014 (142) |
| 71 | ILLUMINA | ss825424769 | Apr 01, 2015 (144) |
| 72 | ILLUMINA | ss832175556 | Apr 01, 2015 (144) |
| 73 | ILLUMINA | ss832841798 | Aug 21, 2014 (142) |
| 74 | ILLUMINA | ss833432628 | Aug 21, 2014 (142) |
| 75 | ILLUMINA | ss833923571 | Aug 21, 2014 (142) |
| 76 | EVA-GONL | ss974860145 | Aug 21, 2014 (142) |
| 77 | JMKIDD_LAB | ss1067416157 | Aug 21, 2014 (142) |
| 78 | JMKIDD_LAB | ss1067672524 | Aug 21, 2014 (142) |
| 79 | 1000GENOMES | ss1289701160 | Aug 21, 2014 (142) |
| 80 | DDI | ss1425713666 | Apr 01, 2015 (144) |
| 81 | EVA_GENOME_DK | ss1573889307 | Apr 01, 2015 (144) |
| 82 | EVA_FINRISK | ss1584004671 | Apr 01, 2015 (144) |
| 83 | EVA_DECODE | ss1584218287 | Apr 01, 2015 (144) |
| 84 | EVA_UK10K_ALSPAC | ss1599557539 | Apr 01, 2015 (144) |
| 85 | EVA_UK10K_TWINSUK | ss1642551572 | Apr 01, 2015 (144) |
| 86 | EVA_EXAC | ss1685304314 | Apr 01, 2015 (144) |
| 87 | EVA_MGP | ss1710888359 | Apr 01, 2015 (144) |
| 88 | EVA_SVP | ss1712311449 | Apr 01, 2015 (144) |
| 89 | ILLUMINA | ss1751866527 | Sep 08, 2015 (146) |
| 90 | ILLUMINA | ss1751866528 | Sep 08, 2015 (146) |
| 91 | ILLUMINA | ss1917722718 | Feb 12, 2016 (147) |
| 92 | WEILL_CORNELL_DGM | ss1918060036 | Feb 12, 2016 (147) |
| 93 | ILLUMINA | ss1945984767 | Feb 12, 2016 (147) |
| 94 | ILLUMINA | ss1958241695 | Feb 12, 2016 (147) |
| 95 | GENOMED | ss1966685448 | Jul 19, 2016 (147) |
| 96 | JJLAB | ss2019543892 | Sep 14, 2016 (149) |
| 97 | ILLUMINA | ss2094782422 | Dec 20, 2016 (150) |
| 98 | ILLUMINA | ss2094952960 | Dec 20, 2016 (150) |
| 99 | USC_VALOUEV | ss2147541934 | Dec 20, 2016 (150) |
| 100 | HUMAN_LONGEVITY | ss2160086461 | Dec 20, 2016 (150) |
| 101 | SYSTEMSBIOZJU | ss2624288339 | Nov 08, 2017 (151) |
| 102 | ILLUMINA | ss2632478011 | Nov 08, 2017 (151) |
| 103 | ILLUMINA | ss2632478012 | Nov 08, 2017 (151) |
| 104 | ILLUMINA | ss2632478013 | Nov 08, 2017 (151) |
| 105 | GRF | ss2697438507 | Nov 08, 2017 (151) |
| 106 | ILLUMINA | ss2710665799 | Nov 08, 2017 (151) |
| 107 | GNOMAD | ss2731121856 | Nov 08, 2017 (151) |
| 108 | GNOMAD | ss2746215881 | Nov 08, 2017 (151) |
| 109 | GNOMAD | ss2751674041 | Nov 08, 2017 (151) |
| 110 | AFFY | ss2984845377 | Nov 08, 2017 (151) |
| 111 | AFFY | ss2985498873 | Nov 08, 2017 (151) |
| 112 | SWEGEN | ss2986303454 | Nov 08, 2017 (151) |
| 113 | ILLUMINA | ss3021054760 | Nov 08, 2017 (151) |
| 114 | EVA_SAMSUNG_MC | ss3023056168 | Nov 08, 2017 (151) |
| 115 | BIOINF_KMB_FNS_UNIBA | ss3023536215 | Nov 08, 2017 (151) |
| 116 | CSHL | ss3343319572 | Nov 08, 2017 (151) |
| 117 | ILLUMINA | ss3625525397 | Oct 11, 2018 (152) |
| 118 | ILLUMINA | ss3626027097 | Oct 11, 2018 (152) |
| 119 | ILLUMINA | ss3626027098 | Oct 11, 2018 (152) |
| 120 | ILLUMINA | ss3630516374 | Oct 11, 2018 (152) |
| 121 | ILLUMINA | ss3632880914 | Oct 11, 2018 (152) |
| 122 | ILLUMINA | ss3633574749 | Oct 11, 2018 (152) |
| 123 | ILLUMINA | ss3634307052 | Oct 11, 2018 (152) |
| 124 | ILLUMINA | ss3634307053 | Oct 11, 2018 (152) |
| 125 | ILLUMINA | ss3635268871 | Oct 11, 2018 (152) |
| 126 | ILLUMINA | ss3635983175 | Oct 11, 2018 (152) |
| 127 | ILLUMINA | ss3637019238 | Oct 11, 2018 (152) |
| 128 | ILLUMINA | ss3637737584 | Oct 11, 2018 (152) |
| 129 | ILLUMINA | ss3638890032 | Oct 11, 2018 (152) |
| 130 | ILLUMINA | ss3639441894 | Oct 11, 2018 (152) |
| 131 | ILLUMINA | ss3640014416 | Oct 11, 2018 (152) |
| 132 | ILLUMINA | ss3640014417 | Oct 11, 2018 (152) |
| 133 | ILLUMINA | ss3642751406 | Oct 11, 2018 (152) |
| 134 | ILLUMINA | ss3644480623 | Oct 11, 2018 (152) |
| 135 | OMUKHERJEE_ADBS | ss3646221387 | Oct 11, 2018 (152) |
| 136 | ILLUMINA | ss3651378721 | Oct 11, 2018 (152) |
| 137 | ILLUMINA | ss3651378722 | Oct 11, 2018 (152) |
| 138 | ILLUMINA | ss3653619015 | Oct 11, 2018 (152) |
| 139 | EGCUT_WGS | ss3654404293 | Jul 12, 2019 (153) |
| 140 | EVA_DECODE | ss3686172750 | Jul 12, 2019 (153) |
| 141 | ILLUMINA | ss3724996809 | Jul 12, 2019 (153) |
| 142 | ACPOP | ss3726794183 | Jul 12, 2019 (153) |
| 143 | ILLUMINA | ss3744339327 | Jul 12, 2019 (153) |
| 144 | ILLUMINA | ss3744608034 | Jul 12, 2019 (153) |
| 145 | ILLUMINA | ss3744608035 | Jul 12, 2019 (153) |
| 146 | EVA | ss3745835092 | Jul 12, 2019 (153) |
| 147 | PAGE_CC | ss3770785810 | Jul 12, 2019 (153) |
| 148 | ILLUMINA | ss3772109641 | Jul 12, 2019 (153) |
| 149 | ILLUMINA | ss3772109642 | Jul 12, 2019 (153) |
| 150 | PACBIO | ss3783325580 | Jul 12, 2019 (153) |
| 151 | PACBIO | ss3788999812 | Jul 12, 2019 (153) |
| 152 | PACBIO | ss3793872554 | Jul 12, 2019 (153) |
| 153 | KHV_HUMAN_GENOMES | ss3798855413 | Jul 12, 2019 (153) |
| 154 | EVA | ss3823560296 | Apr 25, 2020 (154) |
| 155 | EVA | ss3825517528 | Apr 25, 2020 (154) |
| 156 | EVA | ss3825534767 | Apr 25, 2020 (154) |
| 157 | EVA | ss3825553540 | Apr 25, 2020 (154) |
| 158 | EVA | ss3826025675 | Apr 25, 2020 (154) |
| 159 | EVA | ss3836399877 | Apr 25, 2020 (154) |
| 160 | EVA | ss3841804040 | Apr 25, 2020 (154) |
| 161 | HGDP | ss3847324611 | Apr 25, 2020 (154) |
| 162 | SGDP_PRJ | ss3848203218 | Apr 25, 2020 (154) |
| 163 | KRGDB | ss3893088605 | Apr 25, 2020 (154) |
| 164 | FSA-LAB | ss3983916105 | Apr 25, 2021 (155) |
| 165 | FSA-LAB | ss3983916106 | Apr 25, 2021 (155) |
| 166 | EVA | ss3984452197 | Apr 25, 2021 (155) |
| 167 | EVA | ss3984778763 | Apr 25, 2021 (155) |
| 168 | EVA | ss3986008493 | Apr 25, 2021 (155) |
| 169 | EVA | ss3986099136 | Apr 25, 2021 (155) |
| 170 | EVA | ss4016893537 | Apr 25, 2021 (155) |
| 171 | TOPMED | ss4439376297 | Apr 25, 2021 (155) |
| 172 | TOMMO_GENOMICS | ss5142497813 | Apr 25, 2021 (155) |
| 173 | EVA | ss5236864269 | Apr 25, 2021 (155) |
| 174 | EVA | ss5237159248 | Apr 25, 2021 (155) |
| 175 | EVA | ss5237630936 | Oct 12, 2022 (156) |
| 176 | FAHOSYSU | ss5240819063 | Oct 12, 2022 (156) |
| 177 | 1000G_HIGH_COVERAGE | ss5241193235 | Oct 12, 2022 (156) |
| 178 | TRAN_CS_UWATERLOO | ss5314394507 | Oct 12, 2022 (156) |
| 179 | EVA | ss5314593299 | Oct 12, 2022 (156) |
| 180 | EVA | ss5316781304 | Oct 12, 2022 (156) |
| 181 | HUGCELL_USP | ss5442395397 | Oct 12, 2022 (156) |
| 182 | 1000G_HIGH_COVERAGE | ss5512958981 | Oct 12, 2022 (156) |
| 183 | EVA | ss5623987456 | Oct 12, 2022 (156) |
| 184 | SANFORD_IMAGENETICS | ss5624196565 | Oct 12, 2022 (156) |
| 185 | SANFORD_IMAGENETICS | ss5624934450 | Oct 12, 2022 (156) |
| 186 | TOMMO_GENOMICS | ss5666807479 | Oct 12, 2022 (156) |
| 187 | EVA | ss5799407225 | Oct 12, 2022 (156) |
| 188 | EVA | ss5799475173 | Oct 12, 2022 (156) |
| 189 | EVA | ss5800077861 | Oct 12, 2022 (156) |
| 190 | YY_MCH | ss5800327139 | Oct 12, 2022 (156) |
| 191 | EVA | ss5831546384 | Oct 12, 2022 (156) |
| 192 | EVA | ss5847150724 | Oct 12, 2022 (156) |
| 193 | EVA | ss5847152685 | Oct 12, 2022 (156) |
| 194 | EVA | ss5847525593 | Oct 12, 2022 (156) |
| 195 | EVA | ss5848248114 | Oct 12, 2022 (156) |
| 196 | EVA | ss5848785590 | Oct 12, 2022 (156) |
| 197 | EVA | ss5936508033 | Oct 12, 2022 (156) |
| 198 | EVA | ss5936761392 | Oct 12, 2022 (156) |
| 199 | EVA | ss5979263101 | Oct 12, 2022 (156) |
| 200 | EVA | ss5981190370 | Oct 12, 2022 (156) |
| 201 | 1000Genomes | NC_000001.10 - 11856378 | Oct 11, 2018 (152) |
| 202 | 1000Genomes_30x | NC_000001.11 - 11796321 | Oct 12, 2022 (156) |
| 203 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 11856378 | Oct 11, 2018 (152) |
| 204 | Genetic variation in the Estonian population | NC_000001.10 - 11856378 | Oct 11, 2018 (152) |
| 205 | ExAC | NC_000001.10 - 11856378 | Oct 11, 2018 (152) |
| 206 | FINRISK | NC_000001.10 - 11856378 | Apr 25, 2020 (154) |
| 207 | The Danish reference pan genome | NC_000001.10 - 11856378 | Apr 25, 2020 (154) |
| 208 | gnomAD - Genomes | NC_000001.11 - 11796321 | Apr 25, 2021 (155) |
| 209 | gnomAD - Exomes | NC_000001.10 - 11856378 | Jul 12, 2019 (153) |
| 210 | GO Exome Sequencing Project | NC_000001.10 - 11856378 | Oct 11, 2018 (152) |
| 211 | Genome of the Netherlands Release 5 | NC_000001.10 - 11856378 | Apr 25, 2020 (154) |
| 212 | HGDP-CEPH-db Supplement 1 | NC_000001.9 - 11778965 | Apr 25, 2020 (154) |
| 213 | HapMap | NC_000001.11 - 11796321 | Apr 25, 2020 (154) |
| 214 | KOREAN population from KRGDB | NC_000001.10 - 11856378 | Apr 25, 2020 (154) |
| 215 | Medical Genome Project healthy controls from Spanish population | NC_000001.10 - 11856378 | Apr 25, 2020 (154) |
| 216 | Northern Sweden | NC_000001.10 - 11856378 | Jul 12, 2019 (153) |
| 217 | The PAGE Study | NC_000001.11 - 11796321 | Jul 12, 2019 (153) |
| 218 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000001.10 - 11856378 | Apr 25, 2021 (155) |
| 219 | CNV burdens in cranial meningiomas | NC_000001.10 - 11856378 | Apr 25, 2021 (155) |
| 220 | PharmGKB Aggregated | NC_000001.11 - 11796321 | Apr 25, 2020 (154) |
| 221 | Qatari | NC_000001.10 - 11856378 | Apr 25, 2020 (154) |
| 222 | SGDP_PRJ | NC_000001.10 - 11856378 | Apr 25, 2020 (154) |
| 223 | Siberian | NC_000001.10 - 11856378 | Apr 25, 2020 (154) |
| 224 | 8.3KJPN | NC_000001.10 - 11856378 | Apr 25, 2021 (155) |
| 225 | 14KJPN | NC_000001.11 - 11796321 | Oct 12, 2022 (156) |
| 226 | TopMed | NC_000001.11 - 11796321 | Apr 25, 2021 (155) |
| 227 | UK 10K study - Twins | NC_000001.10 - 11856378 | Oct 11, 2018 (152) |
| 228 | A Vietnamese Genetic Variation Database | NC_000001.10 - 11856378 | Jul 12, 2019 (153) |
| 229 | ALFA | NC_000001.11 - 11796321 | Apr 25, 2021 (155) |
| 230 | ClinVar | RCV000003697.10 | Oct 12, 2022 (156) |
| 231 | ClinVar | RCV000144921.2 | Oct 12, 2022 (156) |
| 232 | ClinVar | RCV000153516.16 | Oct 12, 2022 (156) |
| 233 | ClinVar | RCV000259890.4 | Oct 12, 2022 (156) |
| 234 | ClinVar | RCV000427078.2 | Oct 12, 2022 (156) |
| 235 | ClinVar | RCV000428048.7 | Oct 12, 2022 (156) |
| 236 | ClinVar | RCV000761447.2 | Oct 12, 2022 (156) |
| 237 | ClinVar | RCV001030751.7 | Oct 12, 2022 (156) |
| 238 | ClinVar | RCV001276670.2 | Oct 12, 2022 (156) |
| 239 | ClinVar | RCV001787367.2 | Oct 12, 2022 (156) |
| 240 | ClinVar | RCV001847567.2 | Oct 12, 2022 (156) |
| 241 | ClinVar | RCV002227012.2 | Oct 12, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs4134713 | Nov 14, 2002 (109) |
| rs59514310 | May 25, 2008 (130) |
| rs386545618 | Aug 06, 2014 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss3638890032, ss3639441894 | NC_000001.8:11790643:G:A | NC_000001.11:11796320:G:A | (self) |
| 2503, ss107994602, ss166100327, ss198024849, ss205382086, ss275715273, ss284001291, ss290623951, ss480300864, ss491584594, ss825424769, ss1584218287, ss1712311449, ss3642751406, ss3847324611 | NC_000001.9:11778964:G:A | NC_000001.11:11796320:G:A | (self) |
| 377877, 196980, 142541, 4483755, 1132, 1390889, 138124, 19021, 83888, 265999, 5111, 79048, 4690, 1498, 101966, 220198, 58288, 467120, 196980, 41185, ss218238438, ss230427635, ss238142821, ss341933225, ss480311975, ss481067715, ss484948244, ss489721011, ss491286272, ss536992426, ss553801715, ss647577765, ss778467812, ss780753537, ss782920430, ss783431777, ss783883460, ss832175556, ss832841798, ss833432628, ss833923571, ss974860145, ss1067416157, ss1067672524, ss1289701160, ss1425713666, ss1573889307, ss1584004671, ss1599557539, ss1642551572, ss1685304314, ss1710888359, ss1751866527, ss1751866528, ss1917722718, ss1918060036, ss1945984767, ss1958241695, ss1966685448, ss2019543892, ss2094782422, ss2094952960, ss2147541934, ss2624288339, ss2632478011, ss2632478012, ss2632478013, ss2697438507, ss2710665799, ss2731121856, ss2746215881, ss2751674041, ss2984845377, ss2985498873, ss2986303454, ss3021054760, ss3023056168, ss3343319572, ss3625525397, ss3626027097, ss3626027098, ss3630516374, ss3632880914, ss3633574749, ss3634307052, ss3634307053, ss3635268871, ss3635983175, ss3637019238, ss3637737584, ss3640014416, ss3640014417, ss3644480623, ss3646221387, ss3651378721, ss3651378722, ss3653619015, ss3654404293, ss3726794183, ss3744339327, ss3744608034, ss3744608035, ss3745835092, ss3772109641, ss3772109642, ss3783325580, ss3788999812, ss3793872554, ss3823560296, ss3825517528, ss3825534767, ss3825553540, ss3826025675, ss3836399877, ss3848203218, ss3893088605, ss3983916105, ss3983916106, ss3984452197, ss3984778763, ss3986008493, ss3986099136, ss4016893537, ss5142497813, ss5314593299, ss5316781304, ss5623987456, ss5624196565, ss5624934450, ss5799407225, ss5799475173, ss5800077861, ss5831546384, ss5847150724, ss5847152685, ss5847525593, ss5848248114, ss5936508033, ss5936761392, ss5979263101, ss5981190370 | NC_000001.10:11856377:G:A | NC_000001.11:11796320:G:A | (self) |
| RCV000003697.10, RCV000144921.2, RCV000153516.16, RCV000259890.4, RCV000427078.2, RCV000428048.7, RCV000761447.2, RCV001030751.7, RCV001276670.2, RCV001787367.2, RCV001847567.2, RCV002227012.2, 484916, 2629215, 14068, 7279, 30, 644583, 2982632, 11948799629, ss169652100, ss2160086461, ss3023536215, ss3686172750, ss3724996809, ss3770785810, ss3798855413, ss3841804040, ss4439376297, ss5236864269, ss5237159248, ss5237630936, ss5240819063, ss5241193235, ss5314394507, ss5442395397, ss5512958981, ss5666807479, ss5800327139, ss5848785590 | NC_000001.11:11796320:G:A | NC_000001.11:11796320:G:A | (self) |
| ss9880738 | NT_021937.15:2368311:G:A | NC_000001.11:11796320:G:A | (self) |
| ss19153859 | NT_021937.16:5983436:G:A | NC_000001.11:11796320:G:A | (self) |
| ss2421346, ss2978066, ss3210929, ss5586780, ss22887537, ss23844687, ss43851891, ss48422844, ss65725885, ss65837366, ss65978994, ss66739040, ss66859409, ss67197041, ss67586038, ss68758613, ss69366957, ss69370488, ss70457102, ss70675252, ss71238266, ss75689155, ss76875007, ss79094251, ss83877584, ss105110012, ss105121487, ss121814299, ss153736623, ss154641508, ss159329789, ss159696090, ss160462980, ss161162859, ss170815596, ss172925329, ss181341879, ss209087071, ss244285108, ss410765851, ss469414424 | NT_021937.19:7861109:G:A | NC_000001.11:11796320:G:A | (self) |
| 265999, ss3893088605 | NC_000001.10:11856377:G:C | NC_000001.11:11796320:G:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
892
citations for rs1801133
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
Top▲
Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.