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.
rs3733890
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:79126136 (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
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.303711 (92579/304826, ALFA)A=0.285496 (75568/264690, TOPMED)A=0.302334 (75970/251278, GnomAD_exome) (+ 28 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- BHMT : Missense Variant
- Publications
- 64 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 | 321314 | G=0.697856 | A=0.302144 |
| European | Sub | 266040 | G=0.695170 | A=0.304830 |
| African | Sub | 15334 | G=0.77716 | A=0.22284 |
| African Others | Sub | 542 | G=0.784 | A=0.216 |
| African American | Sub | 14792 | G=0.77691 | A=0.22309 |
| Asian | Sub | 3820 | G=0.6940 | A=0.3060 |
| East Asian | Sub | 2452 | G=0.7002 | A=0.2998 |
| Other Asian | Sub | 1368 | G=0.6827 | A=0.3173 |
| Latin American 1 | Sub | 1198 | G=0.6895 | A=0.3105 |
| Latin American 2 | Sub | 6922 | G=0.6313 | A=0.3687 |
| South Asian | Sub | 5044 | G=0.7328 | A=0.2672 |
| Other | Sub | 22956 | G=0.68949 | A=0.31051 |
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 | 304826 | G=0.696289 | A=0.303711 |
| Allele Frequency Aggregator | European | Sub | 255842 | G=0.694991 | A=0.305009 |
| Allele Frequency Aggregator | Other | Sub | 21504 | G=0.68741 | A=0.31259 |
| Allele Frequency Aggregator | African | Sub | 10496 | G=0.77306 | A=0.22694 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6922 | G=0.6313 | A=0.3687 |
| Allele Frequency Aggregator | South Asian | Sub | 5044 | G=0.7328 | A=0.2672 |
| Allele Frequency Aggregator | Asian | Sub | 3820 | G=0.6940 | A=0.3060 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1198 | G=0.6895 | A=0.3105 |
| TopMed | Global | Study-wide | 264690 | G=0.714504 | A=0.285496 |
| gnomAD - Exomes | Global | Study-wide | 251278 | G=0.697666 | A=0.302334 |
| gnomAD - Exomes | European | Sub | 135300 | G=0.711301 | A=0.288699 |
| gnomAD - Exomes | Asian | Sub | 48984 | G=0.69794 | A=0.30206 |
| gnomAD - Exomes | American | Sub | 34534 | G=0.61820 | A=0.38180 |
| gnomAD - Exomes | African | Sub | 16254 | G=0.77839 | A=0.22161 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10074 | G=0.66002 | A=0.33998 |
| gnomAD - Exomes | Other | Sub | 6132 | G=0.6900 | A=0.3100 |
| gnomAD - Genomes | Global | Study-wide | 139936 | G=0.724910 | A=0.275090 |
| gnomAD - Genomes | European | Sub | 75782 | G=0.71283 | A=0.28717 |
| gnomAD - Genomes | African | Sub | 41934 | G=0.77701 | A=0.22299 |
| gnomAD - Genomes | American | Sub | 13626 | G=0.66028 | A=0.33972 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | G=0.6816 | A=0.3184 |
| gnomAD - Genomes | East Asian | Sub | 3122 | G=0.6682 | A=0.3318 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.6933 | A=0.3067 |
| ExAC | Global | Study-wide | 121272 | G=0.704730 | A=0.295270 |
| ExAC | Europe | Sub | 73292 | G=0.70950 | A=0.29050 |
| ExAC | Asian | Sub | 25130 | G=0.70020 | A=0.29980 |
| ExAC | American | Sub | 11550 | G=0.61593 | A=0.38407 |
| ExAC | African | Sub | 10394 | G=0.77958 | A=0.22042 |
| ExAC | Other | Sub | 906 | G=0.717 | A=0.283 |
| The PAGE Study | Global | Study-wide | 78702 | G=0.72390 | A=0.27610 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | G=0.77273 | A=0.22727 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.61832 | A=0.38168 |
| The PAGE Study | Asian | Sub | 8318 | G=0.7497 | A=0.2503 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.6807 | A=0.3193 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.8081 | A=0.1919 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.6797 | A=0.3203 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.6957 | A=0.3043 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.6653 | A=0.3347 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.6176 | A=0.3824 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.6833 | A=0.3167 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.723 | A=0.277 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.78703 | A=0.21297 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.78616 | A=0.21384 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | G=0.72597 | A=0.27403 |
| GO Exome Sequencing Project | European American | Sub | 8600 | G=0.6995 | A=0.3005 |
| GO Exome Sequencing Project | African American | Sub | 4406 | G=0.7776 | A=0.2224 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.7074 | A=0.2926 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.7996 | A=0.2004 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.6722 | A=0.3278 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.7072 | A=0.2928 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.6769 | A=0.3231 |
| 1000Genomes_30x | American | Sub | 980 | G=0.621 | A=0.379 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.7093 | A=0.2907 |
| 1000Genomes | African | Sub | 1322 | G=0.7965 | A=0.2035 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.6845 | A=0.3155 |
| 1000Genomes | Europe | Sub | 1006 | G=0.6769 | A=0.3231 |
| 1000Genomes | South Asian | Sub | 978 | G=0.712 | A=0.288 |
| 1000Genomes | American | Sub | 694 | G=0.622 | A=0.378 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.7312 | A=0.2687 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.7003 | A=0.2997 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.6915 | A=0.3085 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.7345 | A=0.2655 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | G=0.7308 | A=0.2692 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | G=0.704 | A=0.296 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.727 | A=0.273 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.706 | A=0.294 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | G=0.706 | A=0.294 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.835 | A=0.165 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | G=0.671 | A=0.329 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.99 | A=0.01 |
| HapMap | Global | Study-wide | 1892 | G=0.7236 | A=0.2764 |
| HapMap | American | Sub | 770 | G=0.692 | A=0.308 |
| HapMap | African | Sub | 692 | G=0.770 | A=0.230 |
| HapMap | Asian | Sub | 254 | G=0.728 | A=0.272 |
| HapMap | Europe | Sub | 176 | G=0.670 | A=0.330 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.7080 | A=0.2920 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1130 | G=0.6832 | A=0.3168 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | G=0.665 | A=0.335 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=0.688 | A=0.312 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | G=0.738 | A=0.262 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=0.713 | A=0.287 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 94 | G=0.73 | A=0.27 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | G=0.58 | A=0.42 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.677 | A=0.323 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 611 | G=0.669 | A=0.331 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.703 | A=0.297 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.680 | A=0.320 |
| PharmGKB Aggregated | Global | Study-wide | 480 | G=0.710 | A=0.290 |
| PharmGKB Aggregated | PA151168949 | Sub | 480 | G=0.710 | A=0.290 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.760 | A=0.240 |
| SGDP_PRJ | Global | Study-wide | 266 | G=0.421 | A=0.579 |
| Qatari | Global | Study-wide | 216 | G=0.708 | A=0.292 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 74 | G=0.51 | A=0.49 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.60 | A=0.40 |
| Siberian | Global | Study-wide | 26 | 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 5 | NC_000005.10:g.79126136G>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.78421959G>A |
| BHMT RefSeqGene | NG_029156.1:g.19356G>A |
Gene: BHMT, betaine--homocysteine S-methyltransferase
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| BHMT transcript | NM_001713.3:c.716G>A | R [CGA] > Q [CAA] | Coding Sequence Variant |
| betaine--homocysteine S-methyltransferase 1 | NP_001704.2:p.Arg239Gln | R (Arg) > Q (Gln) | 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.
Not Reported in ClinVar
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 |
|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.79126136= | NC_000005.10:g.79126136G>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.78421959= | NC_000005.9:g.78421959G>A |
| BHMT RefSeqGene | NG_029156.1:g.19356= | NG_029156.1:g.19356G>A |
| BHMT transcript | NM_001713.3:c.716= | NM_001713.3:c.716G>A |
| BHMT transcript | NM_001713.2:c.716= | NM_001713.2:c.716G>A |
| betaine--homocysteine S-methyltransferase 1 | NP_001704.2:p.Arg239= | NP_001704.2:p.Arg239Gln |
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#.
189 SubSNP,
30 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | YUSUKE | ss4919886 | Aug 28, 2002 (107) |
| 2 | WI_SSAHASNP | ss6479958 | Feb 20, 2003 (111) |
| 3 | BCM_SSAHASNP | ss10251468 | Jul 11, 2003 (116) |
| 4 | SC_SNP | ss14845362 | Dec 05, 2003 (119) |
| 5 | PERLEGEN | ss23976493 | Sep 20, 2004 (123) |
| 6 | ABI | ss44598566 | Mar 15, 2006 (126) |
| 7 | ILLUMINA | ss66714172 | Dec 01, 2006 (127) |
| 8 | ILLUMINA | ss67297670 | Dec 01, 2006 (127) |
| 9 | ILLUMINA | ss67702206 | Dec 01, 2006 (127) |
| 10 | PERLEGEN | ss68939814 | May 17, 2007 (127) |
| 11 | ILLUMINA | ss70776296 | May 25, 2008 (130) |
| 12 | ILLUMINA | ss71352371 | May 17, 2007 (127) |
| 13 | AFFY | ss74807423 | Aug 16, 2007 (128) |
| 14 | ILLUMINA | ss75632792 | Dec 06, 2007 (129) |
| 15 | SI_EXO | ss76894357 | Dec 06, 2007 (129) |
| 16 | ILLUMINA | ss79163322 | Dec 15, 2007 (130) |
| 17 | PHARMGKB_PPII | ss84153241 | Dec 15, 2007 (130) |
| 18 | KRIBB_YJKIM | ss84159298 | Dec 15, 2007 (130) |
| 19 | CORNELL | ss86237652 | Mar 23, 2008 (129) |
| 20 | HUMANGENOME_JCVI | ss98737204 | Feb 05, 2009 (130) |
| 21 | BGI | ss104208923 | Dec 01, 2009 (131) |
| 22 | 1000GENOMES | ss109154813 | Jan 23, 2009 (130) |
| 23 | 1000GENOMES | ss112063232 | Jan 25, 2009 (130) |
| 24 | ILLUMINA | ss122199751 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss154263391 | Dec 01, 2009 (131) |
| 26 | GMI | ss155633599 | Dec 01, 2009 (131) |
| 27 | ILLUMINA | ss159440257 | Dec 01, 2009 (131) |
| 28 | SEATTLESEQ | ss159709646 | Dec 01, 2009 (131) |
| 29 | ILLUMINA | ss160632466 | Dec 01, 2009 (131) |
| 30 | COMPLETE_GENOMICS | ss162391865 | Jul 04, 2010 (132) |
| 31 | COMPLETE_GENOMICS | ss165309841 | Jul 04, 2010 (132) |
| 32 | COMPLETE_GENOMICS | ss166725477 | Jul 04, 2010 (132) |
| 33 | ILLUMINA | ss171611913 | Jul 04, 2010 (132) |
| 34 | ILLUMINA | ss173613774 | Jul 04, 2010 (132) |
| 35 | BUSHMAN | ss200436012 | Jul 04, 2010 (132) |
| 36 | BCM-HGSC-SUB | ss207162357 | Jul 04, 2010 (132) |
| 37 | 1000GENOMES | ss221762419 | Jul 14, 2010 (132) |
| 38 | 1000GENOMES | ss233005848 | Jul 14, 2010 (132) |
| 39 | 1000GENOMES | ss240165211 | Jul 15, 2010 (132) |
| 40 | ILLUMINA | ss244296101 | Jul 04, 2010 (132) |
| 41 | BL | ss253565929 | May 09, 2011 (134) |
| 42 | GMI | ss278350448 | May 04, 2012 (137) |
| 43 | PJP | ss293387029 | May 09, 2011 (134) |
| 44 | NHLBI-ESP | ss342183791 | May 09, 2011 (134) |
| 45 | ILLUMINA | ss480802898 | May 04, 2012 (137) |
| 46 | ILLUMINA | ss480818648 | May 04, 2012 (137) |
| 47 | ILLUMINA | ss481744751 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss485196226 | May 04, 2012 (137) |
| 49 | 1000GENOMES | ss490905802 | May 04, 2012 (137) |
| 50 | EXOME_CHIP | ss491367937 | May 04, 2012 (137) |
| 51 | CLINSEQ_SNP | ss491868934 | May 04, 2012 (137) |
| 52 | ILLUMINA | ss537184802 | Sep 08, 2015 (146) |
| 53 | TISHKOFF | ss558490878 | Apr 25, 2013 (138) |
| 54 | SSMP | ss652362525 | Apr 25, 2013 (138) |
| 55 | ILLUMINA | ss778893352 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss780838141 | Sep 08, 2015 (146) |
| 57 | ILLUMINA | ss783044161 | Sep 08, 2015 (146) |
| 58 | ILLUMINA | ss783521333 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss784003241 | Sep 08, 2015 (146) |
| 60 | ILLUMINA | ss825493840 | Jul 19, 2016 (147) |
| 61 | ILLUMINA | ss832301930 | Sep 08, 2015 (146) |
| 62 | ILLUMINA | ss832951834 | Jul 13, 2019 (153) |
| 63 | ILLUMINA | ss834354503 | Sep 08, 2015 (146) |
| 64 | JMKIDD_LAB | ss974456228 | Aug 21, 2014 (142) |
| 65 | EVA-GONL | ss981728458 | Aug 21, 2014 (142) |
| 66 | JMKIDD_LAB | ss1067469112 | Aug 21, 2014 (142) |
| 67 | JMKIDD_LAB | ss1072750635 | Aug 21, 2014 (142) |
| 68 | 1000GENOMES | ss1315714391 | Aug 21, 2014 (142) |
| 69 | HAMMER_LAB | ss1397417547 | Sep 08, 2015 (146) |
| 70 | DDI | ss1430392052 | Apr 01, 2015 (144) |
| 71 | EVA_GENOME_DK | ss1581200797 | Apr 01, 2015 (144) |
| 72 | EVA_FINRISK | ss1584039481 | Apr 01, 2015 (144) |
| 73 | EVA_DECODE | ss1591247741 | Apr 01, 2015 (144) |
| 74 | EVA_UK10K_ALSPAC | ss1613215057 | Apr 01, 2015 (144) |
| 75 | EVA_UK10K_TWINSUK | ss1656209090 | Apr 01, 2015 (144) |
| 76 | EVA_EXAC | ss1687861198 | Apr 01, 2015 (144) |
| 77 | EVA_MGP | ss1711090511 | Apr 01, 2015 (144) |
| 78 | EVA_SVP | ss1712775649 | Apr 01, 2015 (144) |
| 79 | ILLUMINA | ss1752585726 | Sep 08, 2015 (146) |
| 80 | ILLUMINA | ss1752585727 | Sep 08, 2015 (146) |
| 81 | ILLUMINA | ss1917791120 | Feb 12, 2016 (147) |
| 82 | WEILL_CORNELL_DGM | ss1924984838 | Feb 12, 2016 (147) |
| 83 | ILLUMINA | ss1946147665 | Feb 12, 2016 (147) |
| 84 | ILLUMINA | ss1946147666 | Feb 12, 2016 (147) |
| 85 | ILLUMINA | ss1958798108 | Feb 12, 2016 (147) |
| 86 | ILLUMINA | ss1958798109 | Feb 12, 2016 (147) |
| 87 | GENOMED | ss1970124574 | Jul 19, 2016 (147) |
| 88 | JJLAB | ss2023098782 | Sep 14, 2016 (149) |
| 89 | USC_VALOUEV | ss2151253887 | Dec 20, 2016 (150) |
| 90 | HUMAN_LONGEVITY | ss2274976472 | Dec 20, 2016 (150) |
| 91 | SYSTEMSBIOZJU | ss2626046477 | Nov 08, 2017 (151) |
| 92 | ILLUMINA | ss2634298031 | Nov 08, 2017 (151) |
| 93 | ILLUMINA | ss2635145983 | Nov 08, 2017 (151) |
| 94 | GRF | ss2706804562 | Nov 08, 2017 (151) |
| 95 | ILLUMINA | ss2711041602 | Nov 08, 2017 (151) |
| 96 | GNOMAD | ss2735083490 | Nov 08, 2017 (151) |
| 97 | GNOMAD | ss2747409744 | Nov 08, 2017 (151) |
| 98 | GNOMAD | ss2826419311 | Nov 08, 2017 (151) |
| 99 | AFFY | ss2985324903 | Nov 08, 2017 (151) |
| 100 | AFFY | ss2985955955 | Nov 08, 2017 (151) |
| 101 | SWEGEN | ss2997189677 | Nov 08, 2017 (151) |
| 102 | ILLUMINA | ss3022500932 | Nov 08, 2017 (151) |
| 103 | ILLUMINA | ss3022500933 | Nov 08, 2017 (151) |
| 104 | EVA_SAMSUNG_MC | ss3023061247 | Nov 08, 2017 (151) |
| 105 | BIOINF_KMB_FNS_UNIBA | ss3025334096 | Nov 08, 2017 (151) |
| 106 | CSHL | ss3346458637 | Nov 08, 2017 (151) |
| 107 | ILLUMINA | ss3625876283 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3629267437 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3629267438 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3632224086 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3633379200 | Oct 12, 2018 (152) |
| 112 | ILLUMINA | ss3634099972 | Oct 12, 2018 (152) |
| 113 | ILLUMINA | ss3635008268 | Oct 12, 2018 (152) |
| 114 | ILLUMINA | ss3635008269 | Oct 12, 2018 (152) |
| 115 | ILLUMINA | ss3635781913 | Oct 12, 2018 (152) |
| 116 | ILLUMINA | ss3636720454 | Oct 12, 2018 (152) |
| 117 | ILLUMINA | ss3637534539 | Oct 12, 2018 (152) |
| 118 | ILLUMINA | ss3638562054 | Oct 12, 2018 (152) |
| 119 | ILLUMINA | ss3639283716 | Oct 12, 2018 (152) |
| 120 | ILLUMINA | ss3639665361 | Oct 12, 2018 (152) |
| 121 | ILLUMINA | ss3640715561 | Oct 12, 2018 (152) |
| 122 | ILLUMINA | ss3640715562 | Oct 12, 2018 (152) |
| 123 | ILLUMINA | ss3641181382 | Oct 12, 2018 (152) |
| 124 | ILLUMINA | ss3641478306 | Oct 12, 2018 (152) |
| 125 | ILLUMINA | ss3643507471 | Oct 12, 2018 (152) |
| 126 | ILLUMINA | ss3644880613 | Oct 12, 2018 (152) |
| 127 | ILLUMINA | ss3644880614 | Oct 12, 2018 (152) |
| 128 | OMUKHERJEE_ADBS | ss3646321645 | Oct 12, 2018 (152) |
| 129 | URBANLAB | ss3648096882 | Oct 12, 2018 (152) |
| 130 | ILLUMINA | ss3652997786 | Oct 12, 2018 (152) |
| 131 | ILLUMINA | ss3652997787 | Oct 12, 2018 (152) |
| 132 | ILLUMINA | ss3654098704 | Oct 12, 2018 (152) |
| 133 | EGCUT_WGS | ss3665068699 | Jul 13, 2019 (153) |
| 134 | EVA_DECODE | ss3714982943 | Jul 13, 2019 (153) |
| 135 | ILLUMINA | ss3726244057 | Jul 13, 2019 (153) |
| 136 | ACPOP | ss3732490485 | Jul 13, 2019 (153) |
| 137 | ILLUMINA | ss3744255044 | Jul 13, 2019 (153) |
| 138 | ILLUMINA | ss3744536792 | Jul 13, 2019 (153) |
| 139 | ILLUMINA | ss3745308477 | Jul 13, 2019 (153) |
| 140 | ILLUMINA | ss3745308478 | Jul 13, 2019 (153) |
| 141 | EVA | ss3763616170 | Jul 13, 2019 (153) |
| 142 | PAGE_CC | ss3771211083 | Jul 13, 2019 (153) |
| 143 | ILLUMINA | ss3772802619 | Jul 13, 2019 (153) |
| 144 | ILLUMINA | ss3772802620 | Jul 13, 2019 (153) |
| 145 | KHV_HUMAN_GENOMES | ss3806784020 | Jul 13, 2019 (153) |
| 146 | EVA | ss3824093206 | Apr 26, 2020 (154) |
| 147 | EVA | ss3825522501 | Apr 26, 2020 (154) |
| 148 | EVA | ss3825538658 | Apr 26, 2020 (154) |
| 149 | EVA | ss3825675376 | Apr 26, 2020 (154) |
| 150 | EVA | ss3829321395 | Apr 26, 2020 (154) |
| 151 | HGDP | ss3847795696 | Apr 26, 2020 (154) |
| 152 | SGDP_PRJ | ss3862189685 | Apr 26, 2020 (154) |
| 153 | KRGDB | ss3908761620 | Apr 26, 2020 (154) |
| 154 | KOGIC | ss3956972846 | Apr 26, 2020 (154) |
| 155 | FSA-LAB | ss3984309608 | Apr 26, 2021 (155) |
| 156 | FSA-LAB | ss3984309609 | Apr 26, 2021 (155) |
| 157 | EVA | ss3985150372 | Apr 26, 2021 (155) |
| 158 | EVA | ss3986311349 | Apr 26, 2021 (155) |
| 159 | EVA | ss4017214510 | Apr 26, 2021 (155) |
| 160 | TOPMED | ss4665372669 | Apr 26, 2021 (155) |
| 161 | TOMMO_GENOMICS | ss5172460319 | Apr 26, 2021 (155) |
| 162 | EVA | ss5237013594 | Apr 26, 2021 (155) |
| 163 | EVA | ss5237373879 | Apr 26, 2021 (155) |
| 164 | EVA | ss5237643816 | Oct 13, 2022 (156) |
| 165 | FAHOSYSU | ss5240819070 | Oct 13, 2022 (156) |
| 166 | 1000G_HIGH_COVERAGE | ss5264522779 | Oct 13, 2022 (156) |
| 167 | EVA | ss5315062524 | Oct 13, 2022 (156) |
| 168 | EVA | ss5358564147 | Oct 13, 2022 (156) |
| 169 | HUGCELL_USP | ss5462639017 | Oct 13, 2022 (156) |
| 170 | EVA | ss5508077160 | Oct 13, 2022 (156) |
| 171 | 1000G_HIGH_COVERAGE | ss5548455505 | Oct 13, 2022 (156) |
| 172 | EVA | ss5624148138 | Oct 13, 2022 (156) |
| 173 | SANFORD_IMAGENETICS | ss5624592920 | Oct 13, 2022 (156) |
| 174 | SANFORD_IMAGENETICS | ss5638118925 | Oct 13, 2022 (156) |
| 175 | TOMMO_GENOMICS | ss5709061285 | Oct 13, 2022 (156) |
| 176 | EVA | ss5799425559 | Oct 13, 2022 (156) |
| 177 | EVA | ss5799652954 | Oct 13, 2022 (156) |
| 178 | EVA | ss5800054193 | Oct 13, 2022 (156) |
| 179 | EVA | ss5800122383 | Oct 13, 2022 (156) |
| 180 | YY_MCH | ss5806454706 | Oct 13, 2022 (156) |
| 181 | EVA | ss5835138403 | Oct 13, 2022 (156) |
| 182 | EVA | ss5847268760 | Oct 13, 2022 (156) |
| 183 | EVA | ss5847521187 | Oct 13, 2022 (156) |
| 184 | EVA | ss5848054047 | Oct 13, 2022 (156) |
| 185 | EVA | ss5848629557 | Oct 13, 2022 (156) |
| 186 | EVA | ss5854876442 | Oct 13, 2022 (156) |
| 187 | EVA | ss5894805105 | Oct 13, 2022 (156) |
| 188 | EVA | ss5966551241 | Oct 13, 2022 (156) |
| 189 | EVA | ss5979744128 | Oct 13, 2022 (156) |
| 190 | 1000Genomes | NC_000005.9 - 78421959 | Oct 12, 2018 (152) |
| 191 | 1000Genomes_30x | NC_000005.10 - 79126136 | Oct 13, 2022 (156) |
| 192 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 78421959 | Oct 12, 2018 (152) |
| 193 | Genome-wide autozygosity in Daghestan | NC_000005.8 - 78457715 | Apr 26, 2020 (154) |
| 194 | Genetic variation in the Estonian population | NC_000005.9 - 78421959 | Oct 12, 2018 (152) |
| 195 | ExAC | NC_000005.9 - 78421959 | Oct 12, 2018 (152) |
| 196 | FINRISK | NC_000005.9 - 78421959 | Apr 26, 2020 (154) |
| 197 | The Danish reference pan genome | NC_000005.9 - 78421959 | Apr 26, 2020 (154) |
| 198 | gnomAD - Genomes | NC_000005.10 - 79126136 | Apr 26, 2021 (155) |
| 199 | gnomAD - Exomes | NC_000005.9 - 78421959 | Jul 13, 2019 (153) |
| 200 | GO Exome Sequencing Project | NC_000005.9 - 78421959 | Oct 12, 2018 (152) |
| 201 | Genome of the Netherlands Release 5 | NC_000005.9 - 78421959 | Apr 26, 2020 (154) |
| 202 | HGDP-CEPH-db Supplement 1 | NC_000005.8 - 78457715 | Apr 26, 2020 (154) |
| 203 | HapMap | NC_000005.10 - 79126136 | Apr 26, 2020 (154) |
| 204 | KOREAN population from KRGDB | NC_000005.9 - 78421959 | Apr 26, 2020 (154) |
| 205 | Korean Genome Project | NC_000005.10 - 79126136 | Apr 26, 2020 (154) |
| 206 | Medical Genome Project healthy controls from Spanish population | NC_000005.9 - 78421959 | Apr 26, 2020 (154) |
| 207 | Northern Sweden | NC_000005.9 - 78421959 | Jul 13, 2019 (153) |
| 208 | The PAGE Study | NC_000005.10 - 79126136 | Jul 13, 2019 (153) |
| 209 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000005.9 - 78421959 | Apr 26, 2021 (155) |
| 210 | PharmGKB Aggregated | NC_000005.10 - 79126136 | Apr 26, 2020 (154) |
| 211 | Qatari | NC_000005.9 - 78421959 | Apr 26, 2020 (154) |
| 212 | SGDP_PRJ | NC_000005.9 - 78421959 | Apr 26, 2020 (154) |
| 213 | Siberian | NC_000005.9 - 78421959 | Apr 26, 2020 (154) |
| 214 | 8.3KJPN | NC_000005.9 - 78421959 | Apr 26, 2021 (155) |
| 215 | 14KJPN | NC_000005.10 - 79126136 | Oct 13, 2022 (156) |
| 216 | TopMed | NC_000005.10 - 79126136 | Apr 26, 2021 (155) |
| 217 | UK 10K study - Twins | NC_000005.9 - 78421959 | Oct 12, 2018 (152) |
| 218 | A Vietnamese Genetic Variation Database | NC_000005.9 - 78421959 | Jul 13, 2019 (153) |
| 219 | ALFA | NC_000005.10 - 79126136 | Apr 26, 2021 (155) |
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) |
|---|---|
| rs52838192 | Sep 21, 2007 (128) |
| rs59208899 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 392534, 473588, ss109154813, ss112063232, ss162391865, ss165309841, ss166725477, ss200436012, ss207162357, ss253565929, ss278350448, ss293387029, ss480802898, ss491868934, ss825493840, ss1397417547, ss1591247741, ss1712775649, ss2635145983, ss3639283716, ss3639665361, ss3643507471, ss3847795696 | NC_000005.8:78457714:G:A | NC_000005.10:79126135:G:A | (self) |
| 27337119, 15199204, 10806947, 7856831, 35942, 7365736, 4202526, 551336, 6757285, 15939014, 206271, 5775350, 376299, 7026768, 14206665, 3770241, 30429626, 15199204, 3374187, ss221762419, ss233005848, ss240165211, ss342183791, ss480818648, ss481744751, ss485196226, ss490905802, ss491367937, ss537184802, ss558490878, ss652362525, ss778893352, ss780838141, ss783044161, ss783521333, ss784003241, ss832301930, ss832951834, ss834354503, ss974456228, ss981728458, ss1067469112, ss1072750635, ss1315714391, ss1430392052, ss1581200797, ss1584039481, ss1613215057, ss1656209090, ss1687861198, ss1711090511, ss1752585726, ss1752585727, ss1917791120, ss1924984838, ss1946147665, ss1946147666, ss1958798108, ss1958798109, ss1970124574, ss2023098782, ss2151253887, ss2626046477, ss2634298031, ss2706804562, ss2711041602, ss2735083490, ss2747409744, ss2826419311, ss2985324903, ss2985955955, ss2997189677, ss3022500932, ss3022500933, ss3023061247, ss3346458637, ss3625876283, ss3629267437, ss3629267438, ss3632224086, ss3633379200, ss3634099972, ss3635008268, ss3635008269, ss3635781913, ss3636720454, ss3637534539, ss3638562054, ss3640715561, ss3640715562, ss3641181382, ss3641478306, ss3644880613, ss3644880614, ss3646321645, ss3652997786, ss3652997787, ss3654098704, ss3665068699, ss3732490485, ss3744255044, ss3744536792, ss3745308477, ss3745308478, ss3763616170, ss3772802619, ss3772802620, ss3824093206, ss3825522501, ss3825538658, ss3825675376, ss3829321395, ss3862189685, ss3908761620, ss3984309608, ss3984309609, ss3985150372, ss3986311349, ss4017214510, ss5172460319, ss5237373879, ss5315062524, ss5358564147, ss5508077160, ss5624148138, ss5624592920, ss5638118925, ss5799425559, ss5799652954, ss5800054193, ss5800122383, ss5835138403, ss5847268760, ss5847521187, ss5848054047, ss5848629557, ss5966551241, ss5979744128 | NC_000005.9:78421958:G:A | NC_000005.10:79126135:G:A | (self) |
| 35981440, 193235242, 2897138, 13350847, 432552, 10236, 42898389, 502750226, 10607733353, ss2274976472, ss3025334096, ss3648096882, ss3714982943, ss3726244057, ss3771211083, ss3806784020, ss3956972846, ss4665372669, ss5237013594, ss5237643816, ss5240819070, ss5264522779, ss5462639017, ss5548455505, ss5709061285, ss5806454706, ss5854876442, ss5894805105 | NC_000005.10:79126135:G:A | NC_000005.10:79126135:G:A | (self) |
| ss10251468, ss14845362 | NT_006713.13:7814090:G:A | NC_000005.10:79126135:G:A | (self) |
| ss76894357 | NT_006713.14:29016316:G:A | NC_000005.10:79126135:G:A | (self) |
| ss4919886, ss6479958, ss23976493, ss44598566, ss66714172, ss67297670, ss67702206, ss68939814, ss70776296, ss71352371, ss74807423, ss75632792, ss79163322, ss84153241, ss84159298, ss86237652, ss98737204, ss104208923, ss122199751, ss154263391, ss155633599, ss159440257, ss159709646, ss160632466, ss171611913, ss173613774, ss244296101 | NT_006713.15:29016317:G:A | NC_000005.10:79126135:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
64
citations for rs3733890
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16816108 | Common genetic polymorphisms affect the human requirement for the nutrient choline. | da Costa KA et al. | 2006 | FASEB journal |
| 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 |
| 17613168 | Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline. | Zeisel SH et al. | 2007 | IUBMB life |
| 18203168 | Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. | Boyles AL et al. | 2008 | American journal of medical genetics. Part A |
| 18230680 | Choline metabolism and risk of breast cancer in a population-based study. | Xu X et al. | 2008 | FASEB journal |
| 18457970 | Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization. | Li F et al. | 2008 | Molecular genetics and metabolism |
| 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 |
| 18789905 | Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models. | Zeisel SH et al. | 2008 | Brain research |
| 19048631 | Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. | Boyles AL et al. | 2009 | Genetic epidemiology |
| 19261726 | Epigenetic mechanisms for nutrition determinants of later health outcomes. | Zeisel SH et al. | 2009 | The American journal of clinical nutrition |
| 19376481 | One-carbon metabolism and breast cancer: an epidemiological perspective. | Xu X et al. | 2009 | Journal of genetics and genomics = Yi chuan xue bao |
| 19493349 | 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. | Shaw GM et al. | 2009 | BMC medical genetics |
| 19635752 | High intakes of choline and betaine reduce breast cancer mortality in a population-based study. | Xu X et al. | 2009 | FASEB journal |
| 19683694 | Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. | Martinez CA et al. | 2009 | American journal of obstetrics and gynecology |
| 19737740 | Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. | Mostowska A et al. | 2010 | Journal of medical genetics |
| 19936946 | Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. | Hazra A et al. | 2010 | Cancer causes & control |
| 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 |
| 20436254 | Choline: clinical nutrigenetic/nutrigenomic approaches for identification of functions and dietary requirements. | Zeisel SH et al. | 2010 | World review of nutrition and dietetics |
| 20664391 | Maternal folate-related gene environment interactions and congenital heart defects. | Hobbs CA et al. | 2010 | Obstetrics and gynecology |
| 21093336 | Betaine-homocysteine methyltransferase: human liver genotype-phenotype correlation. | Feng Q et al. | 2011 | Molecular genetics and metabolism |
| 21146954 | Genes and abdominal aortic aneurysm. | Hinterseher I et al. | 2011 | Annals of vascular surgery |
| 21204206 | Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. | Carter TC et al. | 2011 | American journal of medical genetics. Part A |
| 21254358 | Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection. | Chiquet BT et al. | 2011 | Birth defects research. Part A, Clinical and molecular teratology |
| 21254359 | Folate pathway and nonsyndromic cleft lip and palate. | Blanton SH et al. | 2011 | Birth defects research. Part A, Clinical and molecular teratology |
| 21281325 | Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis. | Cleves MA et al. | 2011 | Paediatric and perinatal epidemiology |
| 21349258 | Folate and choline metabolism gene variants and development of uterine cervical carcinoma. | Mostowska A et al. | 2011 | Clinical biochemistry |
| 21429654 | Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility. | Szczepańska M et al. | 2011 | European journal of obstetrics, gynecology, and reproductive biology |
| 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 |
| 21474952 | Choline: clinical nutrigenetic/nutrigenomic approaches for identification of functions and dietary requirements. | Zeisel SH et al. | 2010 | Journal of nutrigenetics and nutrigenomics |
| 21610500 | Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism. | Schmidt RJ et al. | 2011 | Epidemiology (Cambridge, Mass.) |
| 21615938 | Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder. | Aneiros-Guerrero A et al. | 2011 | BMC medical genetics |
| 21688148 | Polymorphic variants of genes involved in homocysteine metabolism in celiac disease. | Hozyasz KK et al. | 2012 | Molecular biology reports |
| 21857689 | Folate and vitamin B12 in idiopathic male infertility. | Murphy LE et al. | 2011 | Asian journal of andrology |
| 21881118 | Genetic variants and susceptibility to neurological complications following West Nile virus infection. | Loeb M et al. | 2011 | The Journal of infectious diseases |
| 22116453 | Folate and vitamin B12-related genes and risk for omphalocele. | Mills JL et al. | 2012 | Human genetics |
| 22183302 | Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population. | Pawlik P et al. | 2012 | Molecular biology reports |
| 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 |
| 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 |
| 22792358 | Association between genetic variants in DNA and histone methylation and telomere length. | Kim S et al. | 2012 | PloS one |
| 22833659 | Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults. | Clifford AJ et al. | 2012 | The Journal of nutrition |
| 23294634 | Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction. | Dai H et al. | 2013 | BioData mining |
| 23446900 | One-carbon metabolism factors and leukocyte telomere length. | Liu JJ et al. | 2013 | The American journal of clinical nutrition |
| 23656756 | Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults. | Clifford AJ et al. | 2013 | Lipids in health and disease |
| 24048206 | Neural tube defects, folic acid and methylation. | Imbard A et al. | 2013 | International journal of environmental research and public health |
| 24130171 | Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study. | Deroo LA et al. | 2014 | Carcinogenesis |
| 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 |
| 25303517 | Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy. | Smid A et al. | 2014 | PloS one |
| 26451011 | Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas. | Montazeri Z et al. | 2016 | International journal of epidemiology |
| 27452984 | PACSIN2 polymorphism is associated with thiopurine-induced hematological toxicity in children with acute lymphoblastic leukaemia undergoing maintenance therapy. | Smid A et al. | 2016 | Scientific reports |
| 27488260 | Dietary choline and betaine intake, choline-metabolising genetic polymorphisms and breast cancer risk: a case-control study in China. | Du YF et al. | 2016 | The British journal of nutrition |
| 27677362 | Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment. | Jaiswal SK et al. | 2017 | European journal of clinical nutrition |
| 28134761 | Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations. | Ganz AB et al. | 2017 | International journal of molecular sciences |
| 28582843 | Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational characterization. | Bellampalli R et al. | 2017 | Cancer biomarkers |
| 28770393 | Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway. | Cao L et al. | 2018 | Child's nervous system |
| 29407547 | Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems. | Saha T et al. | 2018 | Progress in neuro-psychopharmacology & biological psychiatry |
| 31111486 | Association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia. | Ren B et al. | 2019 | Annals of human genetics |
| 31223810 | ||||
| 31451344 | Association of Betaine-Homocysteine S-Methyl Transferase (rs3797546 and rs3733890) polymorphisms with non-syndromic cleft lip/palate: A meta-analysis. | Imani MM et al. | 2019 | International orthodontics |
| 31826386 | Genetic and epigenetic regulation of BHMT is associated with folate therapy efficacy in hyperhomocysteinaemia. | Li D et al. | 2019 | Asia Pacific journal of clinical nutrition |
| 33195260 | Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors. | Martinelli M et al. | 2020 | Frontiers in cell and developmental biology |
| 33714108 | Polymorphisms in GNMT and DNMT3b are associated with methotrexate treatment outcome in plaque psoriasis. | Grželj J et al. | 2021 | Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie |
| 35001080 | Using the optimal method-explained variance weighted genetic risk score to predict the efficacy of folic acid therapy to hyperhomocysteinemia. | Chen X et al. | 2022 | European journal of clinical nutrition |
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.