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.
rs6730157
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:135149518 (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
- A>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.351252 (92973/264690, TOPMED)G=0.494141 (101705/205822, ALFA)A=0.401484 (56235/140068, GnomAD) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- RAB3GAP1 : Intron Variant
- Publications
- 10 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 205822 | A=0.505859 | G=0.494141 |
| European | Sub | 172046 | A=0.552620 | G=0.447380 |
| African | Sub | 7796 | A=0.1229 | G=0.8771 |
| African Others | Sub | 264 | A=0.015 | G=0.985 |
| African American | Sub | 7532 | A=0.1267 | G=0.8733 |
| Asian | Sub | 486 | A=0.008 | G=0.992 |
| East Asian | Sub | 340 | A=0.006 | G=0.994 |
| Other Asian | Sub | 146 | A=0.014 | G=0.986 |
| Latin American 1 | Sub | 938 | A=0.321 | G=0.679 |
| Latin American 2 | Sub | 8806 | A=0.1991 | G=0.8009 |
| South Asian | Sub | 5042 | A=0.2489 | G=0.7511 |
| Other | Sub | 10708 | A=0.44546 | G=0.55454 |
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 | A=0.351252 | G=0.648748 |
| Allele Frequency Aggregator | Total | Global | 205822 | A=0.505859 | G=0.494141 |
| Allele Frequency Aggregator | European | Sub | 172046 | A=0.552620 | G=0.447380 |
| Allele Frequency Aggregator | Other | Sub | 10708 | A=0.44546 | G=0.55454 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 8806 | A=0.1991 | G=0.8009 |
| Allele Frequency Aggregator | African | Sub | 7796 | A=0.1229 | G=0.8771 |
| Allele Frequency Aggregator | South Asian | Sub | 5042 | A=0.2489 | G=0.7511 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 938 | A=0.321 | G=0.679 |
| Allele Frequency Aggregator | Asian | Sub | 486 | A=0.008 | G=0.992 |
| gnomAD - Genomes | Global | Study-wide | 140068 | A=0.401484 | G=0.598516 |
| gnomAD - Genomes | European | Sub | 75814 | A=0.61913 | G=0.38087 |
| gnomAD - Genomes | African | Sub | 42010 | A=0.12238 | G=0.87762 |
| gnomAD - Genomes | American | Sub | 13642 | A=0.22504 | G=0.77496 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | A=0.1271 | G=0.8729 |
| gnomAD - Genomes | East Asian | Sub | 3128 | A=0.0010 | G=0.9990 |
| gnomAD - Genomes | Other | Sub | 2154 | A=0.3064 | G=0.6936 |
| The PAGE Study | Global | Study-wide | 78700 | A=0.15842 | G=0.84158 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.14381 | G=0.85619 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.17919 | G=0.82081 |
| The PAGE Study | Asian | Sub | 8318 | A=0.0032 | G=0.9968 |
| The PAGE Study | PuertoRican | Sub | 7916 | A=0.2052 | G=0.7948 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.1568 | G=0.8432 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.3087 | G=0.6913 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.1980 | G=0.8020 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.1596 | G=0.8404 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.1796 | G=0.8204 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.4484 | G=0.5516 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.137 | G=0.863 |
| 14KJPN | JAPANESE | Study-wide | 28256 | A=0.00000 | G=1.00000 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.00000 | G=1.00000 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.1654 | G=0.8346 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.0235 | G=0.9765 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.5190 | G=0.4810 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.1165 | G=0.8835 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.0000 | G=1.0000 |
| 1000Genomes_30x | American | Sub | 980 | A=0.224 | G=0.776 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.1579 | G=0.8421 |
| 1000Genomes | African | Sub | 1322 | A=0.0257 | G=0.9743 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.0000 | G=1.0000 |
| 1000Genomes | Europe | Sub | 1006 | A=0.4901 | G=0.5099 |
| 1000Genomes | South Asian | Sub | 978 | A=0.116 | G=0.884 |
| 1000Genomes | American | Sub | 694 | A=0.218 | G=0.782 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.4826 | G=0.5174 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.7143 | G=0.2857 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.6988 | G=0.3012 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.0007 | G=0.9993 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | A=0.1166 | G=0.8834 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.013 | G=0.987 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.246 | G=0.754 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | A=0.071 | G=0.929 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.338 | G=0.662 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=0.008 | G=0.992 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | A=0.000 | G=1.000 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=0.00 | G=1.00 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.0000 | G=1.0000 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.705 | G=0.295 |
| HapMap | Global | Study-wide | 982 | A=0.252 | G=0.748 |
| HapMap | American | Sub | 600 | A=0.383 | G=0.617 |
| HapMap | Europe | Sub | 174 | A=0.098 | G=0.902 |
| HapMap | African | Sub | 120 | A=0.000 | G=1.000 |
| HapMap | Asian | Sub | 88 | A=0.00 | G=1.00 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.760 | G=0.240 |
| SGDP_PRJ | Global | Study-wide | 536 | A=0.060 | G=0.940 |
| Qatari | Global | Study-wide | 216 | A=0.032 | G=0.968 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | A=0.000 | G=1.000 |
| Siberian | Global | Study-wide | 48 | A=0.10 | G=0.90 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.70 | G=0.30 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 8 | A=0.0 | G=1.0 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.135149518A>G |
| GRCh37.p13 chr 2 | NC_000002.11:g.135907088A>G |
| RAB3GAP1 RefSeqGene | NG_016972.1:g.102254A>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| RAB3GAP1 transcript variant 1 |
NM_001172435.2:c.1924-851… NM_001172435.2:c.1924-851A>G |
N/A | Intron Variant |
| RAB3GAP1 transcript variant 2 | NM_012233.3:c.1924-851A>G | N/A | Intron Variant |
| RAB3GAP1 transcript variant X1 |
XM_011510823.4:c.1924-851… XM_011510823.4:c.1924-851A>G |
N/A | Intron Variant |
| RAB3GAP1 transcript variant X3 |
XM_011510825.4:c.1924-851… XM_011510825.4:c.1924-851A>G |
N/A | Intron Variant |
| RAB3GAP1 transcript variant X4 |
XM_047443732.1:c.778-851A… XM_047443732.1:c.778-851A>G |
N/A | Intron Variant |
| RAB3GAP1 transcript variant X2 | XR_001738674.3:n. | N/A | Intron Variant |
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.
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 | A= | G |
|---|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.135149518= | NC_000002.12:g.135149518A>G |
| GRCh37.p13 chr 2 | NC_000002.11:g.135907088= | NC_000002.11:g.135907088A>G |
| RAB3GAP1 RefSeqGene | NG_016972.1:g.102254= | NG_016972.1:g.102254A>G |
| RAB3GAP1 transcript variant 1 | NM_001172435.1:c.1924-851= | NM_001172435.1:c.1924-851A>G |
| RAB3GAP1 transcript variant 1 | NM_001172435.2:c.1924-851= | NM_001172435.2:c.1924-851A>G |
| RAB3GAP1 transcript variant 2 | NM_012233.2:c.1924-851= | NM_012233.2:c.1924-851A>G |
| RAB3GAP1 transcript variant 2 | NM_012233.3:c.1924-851= | NM_012233.3:c.1924-851A>G |
| RAB3GAP1 transcript variant X1 | XM_011510823.4:c.1924-851= | XM_011510823.4:c.1924-851A>G |
| RAB3GAP1 transcript variant X3 | XM_011510825.4:c.1924-851= | XM_011510825.4:c.1924-851A>G |
| RAB3GAP1 transcript variant X4 | XM_047443732.1:c.778-851= | XM_047443732.1:c.778-851A>G |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BCM_SSAHASNP | ss9953331 | Jul 11, 2003 (116) |
| 2 | WUGSC_SSAHASNP | ss14505932 | Dec 05, 2003 (119) |
| 3 | SC_SNP | ss14784790 | Dec 05, 2003 (119) |
| 4 | AFFY | ss66195590 | Dec 02, 2006 (127) |
| 5 | ILLUMINA | ss66656113 | Dec 02, 2006 (127) |
| 6 | ILLUMINA | ss67490924 | Dec 02, 2006 (127) |
| 7 | ILLUMINA | ss67850053 | Dec 02, 2006 (127) |
| 8 | ILLUMINA | ss70882714 | May 24, 2008 (130) |
| 9 | ILLUMINA | ss71473801 | May 18, 2007 (127) |
| 10 | ILLUMINA | ss75515165 | Dec 07, 2007 (129) |
| 11 | AFFY | ss76276994 | Dec 07, 2007 (129) |
| 12 | ILLUMINA | ss79231517 | Dec 14, 2007 (130) |
| 13 | KRIBB_YJKIM | ss84533627 | Dec 14, 2007 (130) |
| 14 | HGSV | ss85696356 | Dec 14, 2007 (130) |
| 15 | BCMHGSC_JDW | ss91357796 | Mar 24, 2008 (129) |
| 16 | BGI | ss106121067 | Feb 04, 2009 (130) |
| 17 | 1000GENOMES | ss110962152 | Jan 25, 2009 (130) |
| 18 | ILLUMINA-UK | ss117887051 | Feb 14, 2009 (130) |
| 19 | ILLUMINA | ss122604434 | Dec 01, 2009 (131) |
| 20 | ENSEMBL | ss138537047 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss154378510 | Dec 01, 2009 (131) |
| 22 | GMI | ss157716610 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss159554370 | Dec 01, 2009 (131) |
| 24 | ILLUMINA | ss160803298 | Dec 01, 2009 (131) |
| 25 | COMPLETE_GENOMICS | ss164288860 | Jul 04, 2010 (132) |
| 26 | ILLUMINA | ss172180864 | Jul 04, 2010 (132) |
| 27 | AFFY | ss173079330 | Jul 04, 2010 (132) |
| 28 | ILLUMINA | ss174088460 | Jul 04, 2010 (132) |
| 29 | BUSHMAN | ss201094072 | Jul 04, 2010 (132) |
| 30 | 1000GENOMES | ss219526774 | Jul 14, 2010 (132) |
| 31 | 1000GENOMES | ss231373008 | Jul 14, 2010 (132) |
| 32 | 1000GENOMES | ss238879419 | Jul 15, 2010 (132) |
| 33 | GMI | ss276692411 | May 04, 2012 (137) |
| 34 | PJP | ss292373512 | May 09, 2011 (134) |
| 35 | ILLUMINA | ss410943119 | Sep 17, 2011 (135) |
| 36 | ILLUMINA | ss481334357 | May 04, 2012 (137) |
| 37 | ILLUMINA | ss481359745 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss482340102 | Sep 08, 2015 (146) |
| 39 | ILLUMINA | ss485462299 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss537384830 | Sep 08, 2015 (146) |
| 41 | TISHKOFF | ss555894479 | Apr 25, 2013 (138) |
| 42 | SSMP | ss649522111 | Apr 25, 2013 (138) |
| 43 | ILLUMINA | ss778578283 | Sep 08, 2015 (146) |
| 44 | ILLUMINA | ss783176635 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss784132041 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss825562035 | Apr 01, 2015 (144) |
| 47 | ILLUMINA | ss832436235 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss833065538 | Jul 13, 2019 (153) |
| 49 | ILLUMINA | ss834035378 | Sep 08, 2015 (146) |
| 50 | EVA-GONL | ss977387469 | Aug 21, 2014 (142) |
| 51 | JMKIDD_LAB | ss1069517442 | Aug 21, 2014 (142) |
| 52 | 1000GENOMES | ss1299443015 | Aug 21, 2014 (142) |
| 53 | DDI | ss1428749385 | Apr 01, 2015 (144) |
| 54 | EVA_GENOME_DK | ss1579098149 | Apr 01, 2015 (144) |
| 55 | EVA_DECODE | ss1586815934 | Apr 01, 2015 (144) |
| 56 | EVA_UK10K_ALSPAC | ss1604624423 | Apr 01, 2015 (144) |
| 57 | EVA_UK10K_TWINSUK | ss1647618456 | Apr 01, 2015 (144) |
| 58 | EVA_SVP | ss1712492085 | Apr 01, 2015 (144) |
| 59 | ILLUMINA | ss1752312338 | Sep 08, 2015 (146) |
| 60 | HAMMER_LAB | ss1797574711 | Sep 08, 2015 (146) |
| 61 | WEILL_CORNELL_DGM | ss1920646136 | Feb 12, 2016 (147) |
| 62 | ILLUMINA | ss1958461009 | Feb 12, 2016 (147) |
| 63 | GENOMED | ss1968895413 | Jul 19, 2016 (147) |
| 64 | JJLAB | ss2020846765 | Sep 14, 2016 (149) |
| 65 | ILLUMINA | ss2094807434 | Dec 20, 2016 (150) |
| 66 | ILLUMINA | ss2095100922 | Dec 20, 2016 (150) |
| 67 | USC_VALOUEV | ss2148913045 | Dec 20, 2016 (150) |
| 68 | HUMAN_LONGEVITY | ss2234510718 | Dec 20, 2016 (150) |
| 69 | SYSTEMSBIOZJU | ss2624930090 | Nov 08, 2017 (151) |
| 70 | ILLUMINA | ss2633676403 | Nov 08, 2017 (151) |
| 71 | ILLUMINA | ss2635095173 | Nov 08, 2017 (151) |
| 72 | GRF | ss2703537697 | Nov 08, 2017 (151) |
| 73 | GNOMAD | ss2779989575 | Nov 08, 2017 (151) |
| 74 | SWEGEN | ss2990475546 | Nov 08, 2017 (151) |
| 75 | ILLUMINA | ss3022019628 | Nov 08, 2017 (151) |
| 76 | BIOINF_KMB_FNS_UNIBA | ss3024186813 | Nov 08, 2017 (151) |
| 77 | CSHL | ss3344494509 | Nov 08, 2017 (151) |
| 78 | ILLUMINA | ss3625766048 | Oct 11, 2018 (152) |
| 79 | ILLUMINA | ss3628171774 | Oct 11, 2018 (152) |
| 80 | ILLUMINA | ss3631639862 | Oct 11, 2018 (152) |
| 81 | ILLUMINA | ss3633217280 | Oct 11, 2018 (152) |
| 82 | ILLUMINA | ss3633929784 | Oct 11, 2018 (152) |
| 83 | ILLUMINA | ss3634788659 | Oct 11, 2018 (152) |
| 84 | ILLUMINA | ss3635615633 | Oct 11, 2018 (152) |
| 85 | ILLUMINA | ss3636477527 | Oct 11, 2018 (152) |
| 86 | ILLUMINA | ss3637367576 | Oct 11, 2018 (152) |
| 87 | ILLUMINA | ss3638289093 | Oct 11, 2018 (152) |
| 88 | ILLUMINA | ss3639148576 | Oct 11, 2018 (152) |
| 89 | ILLUMINA | ss3639586928 | Oct 11, 2018 (152) |
| 90 | ILLUMINA | ss3640495958 | Oct 11, 2018 (152) |
| 91 | ILLUMINA | ss3643255910 | Oct 11, 2018 (152) |
| 92 | ILLUMINA | ss3652460203 | Oct 11, 2018 (152) |
| 93 | EGCUT_WGS | ss3658317714 | Jul 13, 2019 (153) |
| 94 | EVA_DECODE | ss3704947701 | Jul 13, 2019 (153) |
| 95 | ILLUMINA | ss3725826318 | Jul 13, 2019 (153) |
| 96 | ACPOP | ss3728892136 | Jul 13, 2019 (153) |
| 97 | ILLUMINA | ss3744480402 | Jul 13, 2019 (153) |
| 98 | ILLUMINA | ss3745088512 | Jul 13, 2019 (153) |
| 99 | EVA | ss3757417100 | Jul 13, 2019 (153) |
| 100 | PAGE_CC | ss3770950386 | Jul 13, 2019 (153) |
| 101 | ILLUMINA | ss3772585189 | Jul 13, 2019 (153) |
| 102 | PACBIO | ss3784001806 | Jul 13, 2019 (153) |
| 103 | PACBIO | ss3789564280 | Jul 13, 2019 (153) |
| 104 | PACBIO | ss3794437205 | Jul 13, 2019 (153) |
| 105 | KHV_HUMAN_GENOMES | ss3801784447 | Jul 13, 2019 (153) |
| 106 | EVA | ss3827235158 | Apr 25, 2020 (154) |
| 107 | EVA | ss3837032601 | Apr 25, 2020 (154) |
| 108 | EVA | ss3842451216 | Apr 25, 2020 (154) |
| 109 | HGDP | ss3847633880 | Apr 25, 2020 (154) |
| 110 | SGDP_PRJ | ss3853475309 | Apr 25, 2020 (154) |
| 111 | KRGDB | ss3899036548 | Apr 25, 2020 (154) |
| 112 | KOGIC | ss3949026454 | Apr 25, 2020 (154) |
| 113 | EVA | ss3984923520 | Apr 26, 2021 (155) |
| 114 | EVA | ss4017022154 | Apr 26, 2021 (155) |
| 115 | TOPMED | ss4524926369 | Apr 26, 2021 (155) |
| 116 | TOMMO_GENOMICS | ss5153998624 | Apr 26, 2021 (155) |
| 117 | 1000G_HIGH_COVERAGE | ss5250116712 | Oct 12, 2022 (156) |
| 118 | EVA | ss5314771095 | Oct 12, 2022 (156) |
| 119 | HUGCELL_USP | ss5449919039 | Oct 12, 2022 (156) |
| 120 | 1000G_HIGH_COVERAGE | ss5526436818 | Oct 12, 2022 (156) |
| 121 | SANFORD_IMAGENETICS | ss5629866551 | Oct 12, 2022 (156) |
| 122 | TOMMO_GENOMICS | ss5684163357 | Oct 12, 2022 (156) |
| 123 | EVA | ss5799546088 | Oct 12, 2022 (156) |
| 124 | YY_MCH | ss5802749045 | Oct 12, 2022 (156) |
| 125 | EVA | ss5820845265 | Oct 12, 2022 (156) |
| 126 | EVA | ss5852726109 | Oct 12, 2022 (156) |
| 127 | EVA | ss5932486572 | Oct 12, 2022 (156) |
| 128 | EVA | ss5956068247 | Oct 12, 2022 (156) |
| 129 | EVA | ss5980084824 | Oct 12, 2022 (156) |
| 130 | 1000Genomes | NC_000002.11 - 135907088 | Oct 11, 2018 (152) |
| 131 | 1000Genomes_30x | NC_000002.12 - 135149518 | Oct 12, 2022 (156) |
| 132 | The Avon Longitudinal Study of Parents and Children | NC_000002.11 - 135907088 | Oct 11, 2018 (152) |
| 133 | Genetic variation in the Estonian population | NC_000002.11 - 135907088 | Oct 11, 2018 (152) |
| 134 | The Danish reference pan genome | NC_000002.11 - 135907088 | Apr 25, 2020 (154) |
| 135 | gnomAD - Genomes | NC_000002.12 - 135149518 | Apr 26, 2021 (155) |
| 136 | Genome of the Netherlands Release 5 | NC_000002.11 - 135907088 | Apr 25, 2020 (154) |
| 137 | HGDP-CEPH-db Supplement 1 | NC_000002.10 - 135623558 | Apr 25, 2020 (154) |
| 138 | HapMap | NC_000002.12 - 135149518 | Apr 25, 2020 (154) |
| 139 | KOREAN population from KRGDB | NC_000002.11 - 135907088 | Apr 25, 2020 (154) |
| 140 | Korean Genome Project | NC_000002.12 - 135149518 | Apr 25, 2020 (154) |
| 141 | Northern Sweden | NC_000002.11 - 135907088 | Jul 13, 2019 (153) |
| 142 | The PAGE Study | NC_000002.12 - 135149518 | Jul 13, 2019 (153) |
| 143 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000002.11 - 135907088 | Apr 26, 2021 (155) |
| 144 | Qatari | NC_000002.11 - 135907088 | Apr 25, 2020 (154) |
| 145 | SGDP_PRJ | NC_000002.11 - 135907088 | Apr 25, 2020 (154) |
| 146 | Siberian | NC_000002.11 - 135907088 | Apr 25, 2020 (154) |
| 147 | 8.3KJPN | NC_000002.11 - 135907088 | Apr 26, 2021 (155) |
| 148 | 14KJPN | NC_000002.12 - 135149518 | Oct 12, 2022 (156) |
| 149 | TopMed | NC_000002.12 - 135149518 | Apr 26, 2021 (155) |
| 150 | UK 10K study - Twins | NC_000002.11 - 135907088 | Oct 11, 2018 (152) |
| 151 | A Vietnamese Genetic Variation Database | NC_000002.11 - 135907088 | Jul 13, 2019 (153) |
| 152 | ALFA | NC_000002.12 - 135149518 | Apr 26, 2021 (155) |
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) |
|---|---|
| rs58160949 | May 24, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss85696356, ss3639148576, ss3639586928 | NC_000002.9:135740819:A:G | NC_000002.12:135149517:A:G | (self) |
| 311772, ss91357796, ss110962152, ss117887051, ss164288860, ss201094072, ss276692411, ss292373512, ss481334357, ss825562035, ss1586815934, ss1712492085, ss2635095173, ss3643255910, ss3847633880 | NC_000002.10:135623557:A:G | NC_000002.12:135149517:A:G | (self) |
| 10462910, 5762414, 4055962, 5263088, 2533438, 6213942, 2177001, 149447, 2688066, 5492289, 1429399, 11967931, 5762414, 1247052, ss219526774, ss231373008, ss238879419, ss481359745, ss482340102, ss485462299, ss537384830, ss555894479, ss649522111, ss778578283, ss783176635, ss784132041, ss832436235, ss833065538, ss834035378, ss977387469, ss1069517442, ss1299443015, ss1428749385, ss1579098149, ss1604624423, ss1647618456, ss1752312338, ss1797574711, ss1920646136, ss1958461009, ss1968895413, ss2020846765, ss2094807434, ss2095100922, ss2148913045, ss2624930090, ss2633676403, ss2703537697, ss2779989575, ss2990475546, ss3022019628, ss3344494509, ss3625766048, ss3628171774, ss3631639862, ss3633217280, ss3633929784, ss3634788659, ss3635615633, ss3636477527, ss3637367576, ss3638289093, ss3640495958, ss3652460203, ss3658317714, ss3728892136, ss3744480402, ss3745088512, ss3757417100, ss3772585189, ss3784001806, ss3789564280, ss3794437205, ss3827235158, ss3837032601, ss3853475309, ss3899036548, ss3984923520, ss4017022154, ss5153998624, ss5314771095, ss5629866551, ss5799546088, ss5820845265, ss5956068247, ss5980084824 | NC_000002.11:135907087:A:G | NC_000002.12:135149517:A:G | (self) |
| 13962753, 74594313, 1899202, 5404455, 171855, 18000461, 328749248, 6582163891, ss2234510718, ss3024186813, ss3704947701, ss3725826318, ss3770950386, ss3801784447, ss3842451216, ss3949026454, ss4524926369, ss5250116712, ss5449919039, ss5526436818, ss5684163357, ss5802749045, ss5852726109, ss5932486572 | NC_000002.12:135149517:A:G | NC_000002.12:135149517:A:G | (self) |
| ss9953331 | NT_005058.13:4515986:A:G | NC_000002.12:135149517:A:G | (self) |
| ss14505932 | NT_005058.14:4516096:A:G | NC_000002.12:135149517:A:G | (self) |
| ss14784790, ss66195590, ss66656113, ss67490924, ss67850053, ss70882714, ss71473801, ss75515165, ss76276994, ss79231517, ss84533627, ss106121067, ss122604434, ss138537047, ss154378510, ss157716610, ss159554370, ss160803298, ss172180864, ss173079330, ss174088460, ss410943119 | NT_022135.16:25655750:A:G | NC_000002.12:135149517:A:G | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 20370913 | Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. | Ma L et al. | 2010 | BMC medical genetics |
| 21592109 | Wide disparity in genetic admixture among Mexican Americans from San Antonio, TX. | Beuten J et al. | 2011 | Annals of human genetics |
| 21979947 | A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. | Li X et al. | 2012 | Human molecular genetics |
| 22194982 | Association of systemic lupus erythematosus clinical features with European population genetic substructure. | Alonso-Perez E et al. | 2011 | PloS one |
| 22541939 | Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study. | Alonso-Perez E et al. | 2012 | Arthritis research & therapy |
| 23049788 | Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study. | Alonso-Perez E et al. | 2012 | PloS one |
| 27899944 | Epidemiology and genetics of ventricular fibrillation during acute myocardial infarction. | Glinge C et al. | 2016 | Journal of geriatric cardiology |
| 29615537 | Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes. | Kulminski AM et al. | 2018 | Aging |
| 33208821 | Genome-wide association studies and heritability analysis reveal the involvement of host genetics in the Japanese gut microbiota. | Ishida S et al. | 2020 | Communications biology |
| 34159422 | Host genetic control of gut microbiome composition. | Bubier JA et al. | 2021 | Mammalian genome |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.