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.
rs1979277
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr17:18328782 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.297008 (78615/264690, TOPMED)A=0.268191 (58787/219198, GnomAD_exome)A=0.313692 (43910/139978, GnomAD) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- SHMT1 : Missense Variant
- Publications
- 57 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 | 89892 | G=0.69037 | A=0.30963, T=0.00000 |
| European | Sub | 62684 | G=0.68620 | A=0.31380, T=0.00000 |
| African | Sub | 9880 | G=0.6675 | A=0.3325, T=0.0000 |
| African Others | Sub | 356 | G=0.629 | A=0.371, T=0.000 |
| African American | Sub | 9524 | G=0.6689 | A=0.3311, T=0.0000 |
| Asian | Sub | 220 | G=0.936 | A=0.064, T=0.000 |
| East Asian | Sub | 154 | G=0.935 | A=0.065, T=0.000 |
| Other Asian | Sub | 66 | G=0.94 | A=0.06, T=0.00 |
| Latin American 1 | Sub | 892 | G=0.722 | A=0.278, T=0.000 |
| Latin American 2 | Sub | 4704 | G=0.7619 | A=0.2381, T=0.0000 |
| South Asian | Sub | 160 | G=0.838 | A=0.163, T=0.000 |
| Other | Sub | 11352 | G=0.69433 | A=0.30567, T=0.00000 |
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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.702992 | A=0.297008 |
| gnomAD - Exomes | Global | Study-wide | 219198 | G=0.731809 | A=0.268191 |
| gnomAD - Exomes | European | Sub | 113972 | G=0.687704 | A=0.312296 |
| gnomAD - Exomes | Asian | Sub | 44978 | G=0.85649 | A=0.14351 |
| gnomAD - Exomes | American | Sub | 31636 | G=0.76558 | A=0.23442 |
| gnomAD - Exomes | African | Sub | 13584 | G=0.66659 | A=0.33341 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9430 | G=0.6635 | A=0.3365 |
| gnomAD - Exomes | Other | Sub | 5598 | G=0.7104 | A=0.2896 |
| gnomAD - Genomes | Global | Study-wide | 139978 | G=0.686308 | A=0.313692 |
| gnomAD - Genomes | European | Sub | 75832 | G=0.68231 | A=0.31769 |
| gnomAD - Genomes | African | Sub | 41912 | G=0.65397 | A=0.34603 |
| gnomAD - Genomes | American | Sub | 13634 | G=0.75363 | A=0.24637 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.6737 | A=0.3263 |
| gnomAD - Genomes | East Asian | Sub | 3130 | G=0.9252 | A=0.0748 |
| gnomAD - Genomes | Other | Sub | 2148 | G=0.7025 | A=0.2975 |
| Allele Frequency Aggregator | Total | Global | 74236 | G=0.69062 | A=0.30938, T=0.00000 |
| Allele Frequency Aggregator | European | Sub | 53172 | G=0.68378 | A=0.31622, T=0.00000 |
| Allele Frequency Aggregator | Other | Sub | 9978 | G=0.6937 | A=0.3063, T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 5110 | G=0.6695 | A=0.3305, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 4704 | G=0.7619 | A=0.2381, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 892 | G=0.722 | A=0.278, T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 220 | G=0.936 | A=0.064, T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 160 | G=0.838 | A=0.163, T=0.000 |
| ExAC | Global | Study-wide | 62518 | G=0.62728 | A=0.37272 |
| ExAC | Europe | Sub | 36822 | G=0.57286 | A=0.42714 |
| ExAC | Asian | Sub | 14346 | G=0.79067 | A=0.20933 |
| ExAC | African | Sub | 6080 | G=0.5862 | A=0.4138 |
| ExAC | American | Sub | 4760 | G=0.6059 | A=0.3941 |
| ExAC | Other | Sub | 510 | G=0.649 | A=0.351 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.91348 | A=0.08652 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.91169 | A=0.08831 |
| GO Exome Sequencing Project | Global | Study-wide | 13002 | G=0.68520 | A=0.31480 |
| GO Exome Sequencing Project | European American | Sub | 8596 | G=0.6966 | A=0.3034 |
| GO Exome Sequencing Project | African American | Sub | 4406 | G=0.6630 | A=0.3370 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.7670 | A=0.2330 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.6657 | A=0.3343 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.6912 | A=0.3088 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.8511 | A=0.1489 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.9444 | A=0.0556 |
| 1000Genomes_30x | American | Sub | 980 | G=0.735 | A=0.265 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.7722 | A=0.2278 |
| 1000Genomes | African | Sub | 1322 | G=0.6687 | A=0.3313 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9395 | A=0.0605 |
| 1000Genomes | Europe | Sub | 1006 | G=0.6918 | A=0.3082 |
| 1000Genomes | South Asian | Sub | 978 | G=0.852 | A=0.148 |
| 1000Genomes | American | Sub | 694 | G=0.731 | A=0.269 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.6731 | A=0.3269 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.6864 | A=0.3136 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.8963 | A=0.1037 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.689 | A=0.311 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.965 | A=0.035 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.965 | A=0.035 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.728 | A=0.272 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.758 | A=0.242 |
| HapMap | Global | Study-wide | 328 | G=0.707 | A=0.293 |
| HapMap | African | Sub | 120 | G=0.567 | A=0.433 |
| HapMap | American | Sub | 120 | G=0.667 | A=0.333 |
| HapMap | Asian | Sub | 88 | G=0.95 | A=0.05 |
| FINRISK | Finnish from FINRISK project | Study-wide | 270 | G=0.678 | A=0.322 |
| SGDP_PRJ | Global | Study-wide | 224 | G=0.424 | A=0.576 |
| Qatari | Global | Study-wide | 216 | G=0.773 | A=0.227 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.85 | A=0.15 |
| Siberian | Global | Study-wide | 28 | G=0.50 | A=0.50 |
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 17 | NC_000017.11:g.18328782G>A |
| GRCh38.p14 chr 17 | NC_000017.11:g.18328782G>T |
| GRCh37.p13 chr 17 | NC_000017.10:g.18232096G>A |
| GRCh37.p13 chr 17 | NC_000017.10:g.18232096G>T |
| SHMT1 RefSeqGene | NG_017111.1:g.39761C>T |
| SHMT1 RefSeqGene | NG_017111.1:g.39761C>A |
| GRCh38.p14 chr 17 novel patch HSCHR17_3_CTG1 | NW_017363819.1:g.89156G>A |
| GRCh38.p14 chr 17 novel patch HSCHR17_3_CTG1 | NW_017363819.1:g.89156G>T |
Gene: SHMT1, serine hydroxymethyltransferase 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SHMT1 transcript variant 1 | NM_004169.5:c.1420C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform 1 | NP_004160.3:p.Leu474Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant 1 | NM_004169.5:c.1420C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform 1 | NP_004160.3:p.Leu474Ile | L (Leu) > I (Ile) | Missense Variant |
| SHMT1 transcript variant 2 | NM_148918.3:c.1303C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform 2 | NP_683718.1:p.Leu435Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant 2 | NM_148918.3:c.1303C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform 2 | NP_683718.1:p.Leu435Ile | L (Leu) > I (Ile) | Missense Variant |
| SHMT1 transcript variant 3 | NM_001281786.2:c.1006C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform 3 | NP_001268715.1:p.Leu336Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant 3 | NM_001281786.2:c.1006C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform 3 | NP_001268715.1:p.Leu336Ile | L (Leu) > I (Ile) | Missense Variant |
| SHMT1 transcript variant X1 | XM_005256767.4:c.1420C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X1 | XP_005256824.1:p.Leu474Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant X1 | XM_005256767.4:c.1420C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X1 | XP_005256824.1:p.Leu474Ile | L (Leu) > I (Ile) | Missense Variant |
| SHMT1 transcript variant X2 | XM_017024957.2:c.1420C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X1 | XP_016880446.1:p.Leu474Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant X2 | XM_017024957.2:c.1420C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X1 | XP_016880446.1:p.Leu474Ile | L (Leu) > I (Ile) | Missense Variant |
| SHMT1 transcript variant X3 | XM_017024958.2:c.1303C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X2 | XP_016880447.1:p.Leu435Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant X3 | XM_017024958.2:c.1303C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X2 | XP_016880447.1:p.Leu435Ile | L (Leu) > I (Ile) | Missense Variant |
| SHMT1 transcript variant X4 | XM_047436545.1:c.1303C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X2 | XP_047292501.1:p.Leu435Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant X4 | XM_047436545.1:c.1303C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X2 | XP_047292501.1:p.Leu435Ile | L (Leu) > I (Ile) | Missense Variant |
| SHMT1 transcript variant X5 | XM_011523992.4:c.1180C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X3 | XP_011522294.1:p.Leu394Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant X5 | XM_011523992.4:c.1180C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X3 | XP_011522294.1:p.Leu394Ile | L (Leu) > I (Ile) | Missense Variant |
| SHMT1 transcript variant X6 | XM_024450887.2:c.1180C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X3 | XP_024306655.1:p.Leu394Phe | L (Leu) > F (Phe) | Missense Variant |
| SHMT1 transcript variant X6 | XM_024450887.2:c.1180C>A | L [CTC] > I [ATC] | Coding Sequence Variant |
| serine hydroxymethyltransferase, cytosolic isoform X3 | XP_024306655.1:p.Leu394Ile | L (Leu) > I (Ile) | 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:
167454
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000144920.1 | Gastrointestinal stromal tumor | 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 | T |
|---|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.18328782= | NC_000017.11:g.18328782G>A | NC_000017.11:g.18328782G>T |
| GRCh37.p13 chr 17 | NC_000017.10:g.18232096= | NC_000017.10:g.18232096G>A | NC_000017.10:g.18232096G>T |
| SHMT1 RefSeqGene | NG_017111.1:g.39761= | NG_017111.1:g.39761C>T | NG_017111.1:g.39761C>A |
| SHMT1 transcript variant 1 | NM_004169.5:c.1420= | NM_004169.5:c.1420C>T | NM_004169.5:c.1420C>A |
| SHMT1 transcript variant 1 | NM_004169.4:c.1420= | NM_004169.4:c.1420C>T | NM_004169.4:c.1420C>A |
| SHMT1 transcript variant 1 | NM_004169.3:c.1420= | NM_004169.3:c.1420C>T | NM_004169.3:c.1420C>A |
| SHMT1 transcript variant 2 | NM_148918.3:c.1303= | NM_148918.3:c.1303C>T | NM_148918.3:c.1303C>A |
| SHMT1 transcript variant 2 | NM_148918.2:c.1303= | NM_148918.2:c.1303C>T | NM_148918.2:c.1303C>A |
| SHMT1 transcript variant 2 | NM_148918.1:c.1303= | NM_148918.1:c.1303C>T | NM_148918.1:c.1303C>A |
| SHMT1 transcript variant 3 | NM_001281786.2:c.1006= | NM_001281786.2:c.1006C>T | NM_001281786.2:c.1006C>A |
| SHMT1 transcript variant 3 | NM_001281786.1:c.1006= | NM_001281786.1:c.1006C>T | NM_001281786.1:c.1006C>A |
| GRCh38.p14 chr 17 novel patch HSCHR17_3_CTG1 | NW_017363819.1:g.89156= | NW_017363819.1:g.89156G>A | NW_017363819.1:g.89156G>T |
| SHMT1 transcript variant X1 | XM_005256767.4:c.1420= | XM_005256767.4:c.1420C>T | XM_005256767.4:c.1420C>A |
| SHMT1 transcript variant X1 | XM_005256767.3:c.1420= | XM_005256767.3:c.1420C>T | XM_005256767.3:c.1420C>A |
| SHMT1 transcript variant X1 | XM_005256767.2:c.1420= | XM_005256767.2:c.1420C>T | XM_005256767.2:c.1420C>A |
| SHMT1 transcript variant X1 | XM_005256767.1:c.1420= | XM_005256767.1:c.1420C>T | XM_005256767.1:c.1420C>A |
| SHMT1 transcript variant X5 | XM_011523992.4:c.1180= | XM_011523992.4:c.1180C>T | XM_011523992.4:c.1180C>A |
| SHMT1 transcript variant X4 | XM_011523992.3:c.1180= | XM_011523992.3:c.1180C>T | XM_011523992.3:c.1180C>A |
| SHMT1 transcript variant X4 | XM_011523992.2:c.1180= | XM_011523992.2:c.1180C>T | XM_011523992.2:c.1180C>A |
| SHMT1 transcript variant X2 | XM_011523992.1:c.1180= | XM_011523992.1:c.1180C>T | XM_011523992.1:c.1180C>A |
| SHMT1 transcript variant X6 | XM_024450887.2:c.1180= | XM_024450887.2:c.1180C>T | XM_024450887.2:c.1180C>A |
| SHMT1 transcript variant X5 | XM_024450887.1:c.1180= | XM_024450887.1:c.1180C>T | XM_024450887.1:c.1180C>A |
| SHMT1 transcript variant X2 | XM_017024957.2:c.1420= | XM_017024957.2:c.1420C>T | XM_017024957.2:c.1420C>A |
| SHMT1 transcript variant X2 | XM_017024957.1:c.1420= | XM_017024957.1:c.1420C>T | XM_017024957.1:c.1420C>A |
| SHMT1 transcript variant X3 | XM_017024958.2:c.1303= | XM_017024958.2:c.1303C>T | XM_017024958.2:c.1303C>A |
| SHMT1 transcript variant X3 | XM_017024958.1:c.1303= | XM_017024958.1:c.1303C>T | XM_017024958.1:c.1303C>A |
| SHMT1 transcript variant X4 | XM_047436545.1:c.1303= | XM_047436545.1:c.1303C>T | XM_047436545.1:c.1303C>A |
| serine hydroxymethyltransferase, cytosolic isoform 1 | NP_004160.3:p.Leu474= | NP_004160.3:p.Leu474Phe | NP_004160.3:p.Leu474Ile |
| serine hydroxymethyltransferase, cytosolic isoform 2 | NP_683718.1:p.Leu435= | NP_683718.1:p.Leu435Phe | NP_683718.1:p.Leu435Ile |
| serine hydroxymethyltransferase, cytosolic isoform 3 | NP_001268715.1:p.Leu336= | NP_001268715.1:p.Leu336Phe | NP_001268715.1:p.Leu336Ile |
| serine hydroxymethyltransferase, cytosolic isoform X1 | XP_005256824.1:p.Leu474= | XP_005256824.1:p.Leu474Phe | XP_005256824.1:p.Leu474Ile |
| serine hydroxymethyltransferase, cytosolic isoform X3 | XP_011522294.1:p.Leu394= | XP_011522294.1:p.Leu394Phe | XP_011522294.1:p.Leu394Ile |
| serine hydroxymethyltransferase, cytosolic isoform X3 | XP_024306655.1:p.Leu394= | XP_024306655.1:p.Leu394Phe | XP_024306655.1:p.Leu394Ile |
| serine hydroxymethyltransferase, cytosolic isoform X1 | XP_016880446.1:p.Leu474= | XP_016880446.1:p.Leu474Phe | XP_016880446.1:p.Leu474Ile |
| serine hydroxymethyltransferase, cytosolic isoform X2 | XP_016880447.1:p.Leu435= | XP_016880447.1:p.Leu435Phe | XP_016880447.1:p.Leu435Ile |
| serine hydroxymethyltransferase, cytosolic isoform X2 | XP_047292501.1:p.Leu435= | XP_047292501.1:p.Leu435Phe | XP_047292501.1:p.Leu435Ile |
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#.
122 SubSNP,
23 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss2884389 | Jan 12, 2001 (92) |
| 2 | LEE | ss4406215 | May 29, 2002 (106) |
| 3 | SNP500CANCER | ss5586917 | Mar 31, 2003 (113) |
| 4 | CSHL-HAPMAP | ss19370942 | Feb 27, 2004 (120) |
| 5 | SSAHASNP | ss21392072 | Apr 05, 2004 (121) |
| 6 | PERLEGEN | ss23644784 | Sep 20, 2004 (123) |
| 7 | MGC_GENOME_DIFF | ss28504587 | Sep 24, 2004 (126) |
| 8 | ABI | ss40806680 | Mar 11, 2006 (126) |
| 9 | PERLEGEN | ss69193533 | May 16, 2007 (127) |
| 10 | HGSV | ss79784995 | Dec 14, 2007 (130) |
| 11 | HUMANGENOME_JCVI | ss96539596 | Feb 04, 2009 (130) |
| 12 | BGI | ss103336075 | Dec 01, 2009 (131) |
| 13 | 1000GENOMES | ss109688995 | Jan 24, 2009 (130) |
| 14 | 1000GENOMES | ss113376678 | Jan 25, 2009 (130) |
| 15 | ILLUMINA-UK | ss118018661 | Feb 14, 2009 (130) |
| 16 | ENSEMBL | ss136608442 | Dec 01, 2009 (131) |
| 17 | GMI | ss157896820 | Dec 01, 2009 (131) |
| 18 | SEATTLESEQ | ss159734809 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss160483560 | Dec 01, 2009 (131) |
| 20 | COMPLETE_GENOMICS | ss169255117 | Jul 04, 2010 (132) |
| 21 | BUSHMAN | ss202313034 | Jul 04, 2010 (132) |
| 22 | BCM-HGSC-SUB | ss207998959 | Jul 04, 2010 (132) |
| 23 | 1000GENOMES | ss227493219 | Jul 14, 2010 (132) |
| 24 | 1000GENOMES | ss237204105 | Jul 15, 2010 (132) |
| 25 | 1000GENOMES | ss243511429 | Jul 15, 2010 (132) |
| 26 | GMI | ss282714492 | May 04, 2012 (137) |
| 27 | GMI | ss287157473 | Apr 25, 2013 (138) |
| 28 | PJP | ss292025568 | May 09, 2011 (134) |
| 29 | NHLBI-ESP | ss342447394 | May 09, 2011 (134) |
| 30 | ILLUMINA | ss481149600 | Sep 08, 2015 (146) |
| 31 | ILLUMINA | ss483604057 | May 04, 2012 (137) |
| 32 | ILLUMINA | ss483962633 | May 04, 2012 (137) |
| 33 | 1000GENOMES | ss491118597 | May 04, 2012 (137) |
| 34 | EXOME_CHIP | ss491518723 | May 04, 2012 (137) |
| 35 | CLINSEQ_SNP | ss491732105 | May 04, 2012 (137) |
| 36 | ILLUMINA | ss536156364 | Sep 08, 2015 (146) |
| 37 | TISHKOFF | ss565204376 | Apr 25, 2013 (138) |
| 38 | SSMP | ss660996207 | Apr 25, 2013 (138) |
| 39 | ILLUMINA | ss778682816 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss782425352 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss834141415 | Sep 08, 2015 (146) |
| 42 | JMKIDD_LAB | ss974497979 | Aug 21, 2014 (142) |
| 43 | EVA-GONL | ss992983074 | Aug 21, 2014 (142) |
| 44 | JMKIDD_LAB | ss1067569115 | Aug 21, 2014 (142) |
| 45 | JMKIDD_LAB | ss1080977176 | Aug 21, 2014 (142) |
| 46 | 1000GENOMES | ss1358132802 | Aug 21, 2014 (142) |
| 47 | DDI | ss1427995387 | Apr 01, 2015 (144) |
| 48 | CLINVAR | ss1457621886 | Nov 23, 2014 (142) |
| 49 | EVA_GENOME_DK | ss1578113444 | Apr 01, 2015 (144) |
| 50 | EVA_FINRISK | ss1584104860 | Apr 01, 2015 (144) |
| 51 | EVA_UK10K_ALSPAC | ss1635403993 | Apr 01, 2015 (144) |
| 52 | EVA_UK10K_TWINSUK | ss1678398026 | Apr 01, 2015 (144) |
| 53 | EVA_EXAC | ss1692653212 | Apr 01, 2015 (144) |
| 54 | EVA_DECODE | ss1697025412 | Apr 01, 2015 (144) |
| 55 | EVA_MGP | ss1711451335 | Apr 01, 2015 (144) |
| 56 | HAMMER_LAB | ss1808731070 | Sep 08, 2015 (146) |
| 57 | WEILL_CORNELL_DGM | ss1936435228 | Feb 12, 2016 (147) |
| 58 | GENOMED | ss1968365544 | Jul 19, 2016 (147) |
| 59 | JJLAB | ss2029003809 | Sep 14, 2016 (149) |
| 60 | USC_VALOUEV | ss2157456162 | Dec 20, 2016 (150) |
| 61 | ILLUMINA | ss2633383445 | Nov 08, 2017 (151) |
| 62 | GRF | ss2702004593 | Nov 08, 2017 (151) |
| 63 | GNOMAD | ss2742522181 | Nov 08, 2017 (151) |
| 64 | GNOMAD | ss2749713798 | Nov 08, 2017 (151) |
| 65 | GNOMAD | ss2948334218 | Nov 08, 2017 (151) |
| 66 | AFFY | ss2985088791 | Nov 08, 2017 (151) |
| 67 | AFFY | ss2985726824 | Nov 08, 2017 (151) |
| 68 | SWEGEN | ss3015292761 | Nov 08, 2017 (151) |
| 69 | EVA_SAMSUNG_MC | ss3023070378 | Nov 08, 2017 (151) |
| 70 | BIOINF_KMB_FNS_UNIBA | ss3028322179 | Nov 08, 2017 (151) |
| 71 | CSHL | ss3351679985 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss3627640914 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3631365480 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3636358323 | Oct 12, 2018 (152) |
| 75 | OMUKHERJEE_ADBS | ss3646505339 | Oct 12, 2018 (152) |
| 76 | URBANLAB | ss3650616674 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3653861391 | Oct 12, 2018 (152) |
| 78 | EVA_DECODE | ss3700199247 | Jul 13, 2019 (153) |
| 79 | ACPOP | ss3741924045 | Jul 13, 2019 (153) |
| 80 | EVA | ss3754521185 | Jul 13, 2019 (153) |
| 81 | PACBIO | ss3788165385 | Jul 13, 2019 (153) |
| 82 | PACBIO | ss3793131203 | Jul 13, 2019 (153) |
| 83 | PACBIO | ss3798016879 | Jul 13, 2019 (153) |
| 84 | KHV_HUMAN_GENOMES | ss3819794616 | Jul 13, 2019 (153) |
| 85 | EVA | ss3825089186 | Apr 27, 2020 (154) |
| 86 | EVA | ss3825531179 | Apr 27, 2020 (154) |
| 87 | EVA | ss3825545928 | Apr 27, 2020 (154) |
| 88 | EVA | ss3825894595 | Apr 27, 2020 (154) |
| 89 | EVA | ss3834810075 | Apr 27, 2020 (154) |
| 90 | EVA | ss3841014107 | Apr 27, 2020 (154) |
| 91 | EVA | ss3846508954 | Apr 27, 2020 (154) |
| 92 | SGDP_PRJ | ss3885464776 | Apr 27, 2020 (154) |
| 93 | KRGDB | ss3935076056 | Apr 27, 2020 (154) |
| 94 | FSA-LAB | ss3984109984 | Apr 26, 2021 (155) |
| 95 | EVA | ss3984721234 | Apr 26, 2021 (155) |
| 96 | EVA | ss3986717123 | Apr 26, 2021 (155) |
| 97 | TOPMED | ss5031344090 | Apr 26, 2021 (155) |
| 98 | TOMMO_GENOMICS | ss5221760442 | Apr 26, 2021 (155) |
| 99 | EVA | ss5236940727 | Apr 26, 2021 (155) |
| 100 | EVA | ss5237573566 | Apr 26, 2021 (155) |
| 101 | EVA | ss5237668505 | Oct 17, 2022 (156) |
| 102 | 1000G_HIGH_COVERAGE | ss5302631640 | Oct 17, 2022 (156) |
| 103 | TRAN_CS_UWATERLOO | ss5314447310 | Oct 17, 2022 (156) |
| 104 | EVA | ss5315879133 | Oct 17, 2022 (156) |
| 105 | EVA | ss5426748572 | Oct 17, 2022 (156) |
| 106 | HUGCELL_USP | ss5495779688 | Oct 17, 2022 (156) |
| 107 | EVA | ss5511739270 | Oct 17, 2022 (156) |
| 108 | 1000G_HIGH_COVERAGE | ss5606075047 | Oct 17, 2022 (156) |
| 109 | EVA | ss5623970332 | Oct 17, 2022 (156) |
| 110 | EVA | ss5624070012 | Oct 17, 2022 (156) |
| 111 | SANFORD_IMAGENETICS | ss5624394300 | Oct 17, 2022 (156) |
| 112 | SANFORD_IMAGENETICS | ss5659840222 | Oct 17, 2022 (156) |
| 113 | TOMMO_GENOMICS | ss5777434073 | Oct 17, 2022 (156) |
| 114 | YY_MCH | ss5816388189 | Oct 17, 2022 (156) |
| 115 | EVA | ss5833802215 | Oct 17, 2022 (156) |
| 116 | EVA | ss5847472793 | Oct 17, 2022 (156) |
| 117 | EVA | ss5847791929 | Oct 17, 2022 (156) |
| 118 | EVA | ss5848443735 | Oct 17, 2022 (156) |
| 119 | EVA | ss5913448499 | Oct 17, 2022 (156) |
| 120 | EVA | ss5951251482 | Oct 17, 2022 (156) |
| 121 | EVA | ss5979502914 | Oct 17, 2022 (156) |
| 122 | EVA | ss5980957207 | Oct 17, 2022 (156) |
| 123 | 1000Genomes | NC_000017.10 - 18232096 | Oct 12, 2018 (152) |
| 124 | 1000Genomes_30x | NC_000017.11 - 18328782 | Oct 17, 2022 (156) |
| 125 | The Avon Longitudinal Study of Parents and Children | NC_000017.10 - 18232096 | Oct 12, 2018 (152) |
| 126 | ExAC | NC_000017.10 - 18232096 | Oct 12, 2018 (152) |
| 127 | FINRISK | NC_000017.10 - 18232096 | Apr 27, 2020 (154) |
| 128 | The Danish reference pan genome | NC_000017.10 - 18232096 | Apr 27, 2020 (154) |
| 129 | gnomAD - Genomes | NC_000017.11 - 18328782 | Apr 26, 2021 (155) |
| 130 | gnomAD - Exomes | NC_000017.10 - 18232096 | Jul 13, 2019 (153) |
| 131 | GO Exome Sequencing Project | NC_000017.10 - 18232096 | Oct 12, 2018 (152) |
| 132 | Genome of the Netherlands Release 5 | NC_000017.10 - 18232096 | Apr 27, 2020 (154) |
| 133 | HapMap | NC_000017.11 - 18328782 | Apr 27, 2020 (154) |
| 134 | KOREAN population from KRGDB | NC_000017.10 - 18232096 | Apr 27, 2020 (154) |
| 135 | Medical Genome Project healthy controls from Spanish population | NC_000017.10 - 18232096 | Apr 27, 2020 (154) |
| 136 | Northern Sweden | NC_000017.10 - 18232096 | Jul 13, 2019 (153) |
| 137 | CNV burdens in cranial meningiomas | NC_000017.10 - 18232096 | Apr 26, 2021 (155) |
| 138 | Qatari | NC_000017.10 - 18232096 | Apr 27, 2020 (154) |
| 139 | SGDP_PRJ | NC_000017.10 - 18232096 | Apr 27, 2020 (154) |
| 140 | Siberian | NC_000017.10 - 18232096 | Apr 27, 2020 (154) |
| 141 | 8.3KJPN | NC_000017.10 - 18232096 | Apr 26, 2021 (155) |
| 142 | 14KJPN | NC_000017.11 - 18328782 | Oct 17, 2022 (156) |
| 143 | TopMed | NC_000017.11 - 18328782 | Apr 26, 2021 (155) |
| 144 | UK 10K study - Twins | NC_000017.10 - 18232096 | Oct 12, 2018 (152) |
| 145 | ALFA | NC_000017.11 - 18328782 | Apr 26, 2021 (155) |
| 146 | ClinVar | RCV000144920.1 | Oct 12, 2018 (152) |
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) |
|---|---|
| rs2230025 | Jan 04, 2002 (102) |
| rs3183766 | Jul 03, 2002 (106) |
| rs17850285 | Mar 11, 2006 (126) |
| rs57933897 | May 24, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss79784995, ss109688995, ss113376678, ss118018661, ss169255117, ss202313034, ss207998959, ss282714492, ss287157473, ss292025568, ss483604057, ss491732105, ss1697025412 | NC_000017.9:18172820:G:A | NC_000017.11:18328781:G:A | (self) |
| 71355718, 39572791, 3086136, 101321, 4317379, 11823836, 1546299, 17641637, 42253450, 567095, 15208910, 270778, 18477150, 37481756, 9972516, 79729749, 39572791, ss227493219, ss237204105, ss243511429, ss342447394, ss481149600, ss483962633, ss491118597, ss491518723, ss536156364, ss565204376, ss660996207, ss778682816, ss782425352, ss834141415, ss974497979, ss992983074, ss1067569115, ss1080977176, ss1358132802, ss1427995387, ss1578113444, ss1584104860, ss1635403993, ss1678398026, ss1692653212, ss1711451335, ss1808731070, ss1936435228, ss1968365544, ss2029003809, ss2157456162, ss2633383445, ss2702004593, ss2742522181, ss2749713798, ss2948334218, ss2985088791, ss2985726824, ss3015292761, ss3023070378, ss3351679985, ss3627640914, ss3631365480, ss3636358323, ss3646505339, ss3653861391, ss3741924045, ss3754521185, ss3788165385, ss3793131203, ss3798016879, ss3825089186, ss3825531179, ss3825545928, ss3825894595, ss3834810075, ss3841014107, ss3885464776, ss3935076056, ss3984109984, ss3984721234, ss3986717123, ss5221760442, ss5237573566, ss5315879133, ss5426748572, ss5511739270, ss5623970332, ss5624070012, ss5624394300, ss5659840222, ss5833802215, ss5847472793, ss5847791929, ss5848443735, ss5951251482, ss5979502914, ss5980957207 | NC_000017.10:18232095:G:A | NC_000017.11:18328781:G:A | (self) |
| RCV000144920.1, 93600982, 503075227, 1468989, 111271177, 246889752, 8837011293, ss1457621886, ss3028322179, ss3650616674, ss3700199247, ss3819794616, ss3846508954, ss5031344090, ss5236940727, ss5237668505, ss5302631640, ss5314447310, ss5495779688, ss5606075047, ss5777434073, ss5816388189, ss5913448499 | NC_000017.11:18328781:G:A | NC_000017.11:18328781:G:A | (self) |
| ss19370942, ss21392072 | NT_010718.14:17073101:G:A | NC_000017.11:18328781:G:A | (self) |
| ss2884389, ss4406215, ss5586917, ss23644784, ss28504587, ss40806680, ss69193533, ss96539596, ss103336075, ss136608442, ss157896820, ss159734809, ss160483560 | NT_010718.16:17835469:G:A | NC_000017.11:18328781:G:A | (self) |
| 8837011293 | NC_000017.11:18328781:G:T | NC_000017.11:18328781:G:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
57
citations for rs1979277
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15911586 | Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci. | Hughes AL et al. | 2005 | Genetics |
| 17035141 | Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. | Boyles AL et al. | 2006 | Environmental health perspectives |
| 17119116 | Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. | Lim U et al. | 2007 | Blood |
| 17366837 | Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada. | Steinberg KK et al. | 2007 | Environmental health perspectives |
| 17420066 | Polymorphisms of cytosolic serine hydroxymethyltransferase and risk of lung cancer: a case-control analysis. | Wang L et al. | 2007 | Lung cancer (Amsterdam, Netherlands) |
| 18381459 | Genetic variation in the one-carbon transfer pathway and ovarian cancer risk. | Kelemen LE et al. | 2008 | Cancer research |
| 18521744 | BRCA1 promoter methylation is associated with increased mortality among women with breast cancer. | Xu X et al. | 2009 | Breast cancer research and treatment |
| 18708404 | B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer. | Xu X et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 18830263 | Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. | Wang SS et al. | 2009 | Leukemia |
| 19064578 | No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk. | Stevens VL et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 19376481 | One-carbon metabolism and breast cancer: an epidemiological perspective. | Xu X et al. | 2009 | Journal of genetics and genomics = Yi chuan xue bao |
| 19706844 | Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis. | Collin SM et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19776626 | Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk. | Steck SE et al. | 2008 | Journal of nutrigenetics and nutrigenomics |
| 20101025 | Genetic variation in the folate metabolic pathway and risk of childhood leukemia. | Lightfoot TJ et al. | 2010 | Blood |
| 20111745 | Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects. | Lupo PJ et al. | 2010 | Journal of biomedicine & biotechnology |
| 20458436 | Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. | Giusti B et al. | 2010 | Thrombosis and haemostasis |
| 20544798 | Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women. | Summers CM et al. | 2010 | Birth defects research. Part A, Clinical and molecular teratology |
| 20600216 | Individual differences in arsenic metabolism and lung cancer in a case-control study in Cordoba, Argentina. | Steinmaus C et al. | 2010 | Toxicology and applied pharmacology |
| 20670920 | Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism. | Porter KE et al. | 2010 | Environmental research |
| 20852008 | Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer. | Collin SM et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 21146954 | Genes and abdominal aortic aneurysm. | Hinterseher I et al. | 2011 | Annals of vascular surgery |
| 21178087 | Polymorphisms in serine hydroxymethyltransferase 1 and methylenetetrahydrofolate reductase interact to increase cardiovascular disease risk in humans. | Wernimont SM et al. | 2011 | The Journal of nutrition |
| 21274745 | Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study. | Levine AJ et al. | 2011 | Cancer causes & control |
| 21467728 | Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. | Wakai K et al. | 2011 | Journal of epidemiology |
| 21615938 | Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder. | Aneiros-Guerrero A et al. | 2011 | BMC medical genetics |
| 21618410 | Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy. | Kamdar KY et al. | 2011 | Pediatric blood & cancer |
| 21687976 | Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome. | Marucci GH et al. | 2012 | Molecular biology reports |
| 21747588 | Genetic variation in genes involved in folate and drug metabolism in a south Indian population. | Rai PS et al. | 2011 | Indian journal of human genetics |
| 21748308 | Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia. | Metayer C et al. | 2011 | Cancer causes & control |
| 21857689 | Folate and vitamin B12 in idiopathic male infertility. | Murphy LE et al. | 2011 | Asian journal of andrology |
| 22103680 | Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study. | Wernimont SM et al. | 2011 | BMC medical genetics |
| 22116453 | Folate and vitamin B12-related genes and risk for omphalocele. | Mills JL et al. | 2012 | Human genetics |
| 22220685 | Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization. | Hebbring SJ et al. | 2012 | Journal of neurochemistry |
| 22371529 | DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study. | Xu X et al. | 2012 | FASEB journal |
| 22479380 | Genetic and non-genetic influences during pregnancy on infant global and site specific DNA methylation: role for folate gene variants and vitamin B12. | McKay JA et al. | 2012 | PloS one |
| 22496743 | Genetic variant of AMD1 is associated with obesity in urban Indian children. | Tabassum R et al. | 2012 | PloS one |
| 22616673 | Global tests of P-values for multifactor dimensionality reduction models in selection of optimal number of target genes. | Dai H et al. | 2012 | BioData mining |
| 23294634 | Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction. | Dai H et al. | 2013 | BioData mining |
| 23401104 | Folate-genetics and colorectal neoplasia: what we know and need to know next. | Figueiredo JC et al. | 2013 | Molecular nutrition & food research |
| 23446900 | One-carbon metabolism factors and leukocyte telomere length. | Liu JJ et al. | 2013 | The American journal of clinical nutrition |
| 23913011 | Role of one-carbon metabolizing pathway genes and gene-nutrient interaction in the risk of non-Hodgkin lymphoma. | Li Q et al. | 2013 | Cancer causes & control |
| 23940529 | Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis. | Lautner-Csorba O et al. | 2013 | PloS one |
| 24048206 | Neural tube defects, folic acid and methylation. | Imbard A et al. | 2013 | International journal of environmental research and public health |
| 24362509 | DNMT3B C46359T and SHMT1 C1420T polymorphisms in the folate pathway in carcinogenesis of head and neck. | Succi M et al. | 2014 | Molecular biology reports |
| 24524080 | The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism. | Liang S et al. | 2014 | BioMed research international |
| 25041994 | Polymorphisms in folate-metabolizing enzymes and response to 5-fluorouracil among patients with stage II or III rectal cancer (INT-0144; SWOG 9304). | Ulrich CM et al. | 2014 | Cancer |
| 25227144 | Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome. | Angelini S et al. | 2015 | European journal of human genetics |
| 27808252 | Functional variants of the 5-methyltetrahydrofolate-homocysteine methyltransferase gene significantly increase susceptibility to prostate cancer: Results from an ethnic Han Chinese population. | Qu YY et al. | 2016 | Scientific reports |
| 29627528 | The association between donor genetic variations in one-carbon metabolism pathway genes and hepatitis B recurrence after liver transplantation. | Lu D et al. | 2018 | Gene |
| 29953918 | Identification of three novel loci of ALDH2 Gene for Serum Folate levels in a Male Chinese Population by Genome-Wide Association Study. | Deng C et al. | 2018 | Gene |
| 30456721 | Association of SHMT1, MAZ, ERG, and L3MBTL3 Gene Polymorphisms with Susceptibility to Multiple Sclerosis. | Nazari Mehrabani SZ et al. | 2019 | Biochemical genetics |
| 30587867 | Polymorphisms in folic acid metabolism genes do not associate with cancer cachexia in Japanese gastrointestinal patients. | Morishita T et al. | 2018 | Nagoya journal of medical science |
| 31713293 | A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile. | Salamanca C et al. | 2020 | Oral diseases |
| 33369477 | Gene Polymorphisms Involved in Folate Metabolism and DNA Methylation with the Risk of Head and Neck Cancer. | De Castro TB et al. | 2020 | Asian Pacific journal of cancer prevention |
| 33974584 | Association Between SHMT1 rs1979277 Polymorphism and Risk of Acute Lymphoblastic Leukemia: A Systematic Review and Meta-analysis. | Yang QQ et al. | 2022 | Journal of pediatric hematology/oncology |
| 34013078 | Host pharmacogenetic factors that may affect liver neoplasm incidence upon using direct-acting antivirals for treating hepatitis C infection. | Zidan AM et al. | 2021 | Heliyon |
| 35098008 | Maternal polymorphic loci of rs1979277 serine hydroxymethyl transferase and rs1805087 5-methylenetetrahydrofolate are correlated with the development of fetal growth restriction: A case-control study. | Efremova O et al. | 2021 | International journal of reproductive biomedicine |
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
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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.