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.
rs17465637
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:222650187 (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>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.305247 (90739/297264, ALFA)A=0.458944 (121478/264690, TOPMED)A=0.433782 (60733/140008, GnomAD) (+ 23 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MIA3 : Intron Variant
- Publications
- 65 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 | 297480 | A=0.305200 | C=0.694800, T=0.000000 |
European | Sub | 254742 | A=0.278309 | C=0.721691, T=0.000000 |
African | Sub | 9948 | A=0.7338 | C=0.2662, T=0.0000 |
African Others | Sub | 346 | A=0.812 | C=0.188, T=0.000 |
African American | Sub | 9602 | A=0.7310 | C=0.2690, T=0.0000 |
Asian | Sub | 6890 | A=0.3900 | C=0.6100, T=0.0000 |
East Asian | Sub | 4936 | A=0.4050 | C=0.5950, T=0.0000 |
Other Asian | Sub | 1954 | A=0.3521 | C=0.6479, T=0.0000 |
Latin American 1 | Sub | 1028 | A=0.4377 | C=0.5623, T=0.0000 |
Latin American 2 | Sub | 6586 | A=0.5161 | C=0.4839, T=0.0000 |
South Asian | Sub | 368 | A=0.359 | C=0.641, T=0.000 |
Other | Sub | 17918 | A=0.33073 | C=0.66927, 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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 297264 | A=0.305247 | C=0.694753, T=0.000000 |
Allele Frequency Aggregator | European | Sub | 254562 | A=0.278333 | C=0.721667, T=0.000000 |
Allele Frequency Aggregator | Other | Sub | 17896 | A=0.33102 | C=0.66898, T=0.00000 |
Allele Frequency Aggregator | African | Sub | 9934 | A=0.7342 | C=0.2658, T=0.0000 |
Allele Frequency Aggregator | Asian | Sub | 6890 | A=0.3900 | C=0.6100, T=0.0000 |
Allele Frequency Aggregator | Latin American 2 | Sub | 6586 | A=0.5161 | C=0.4839, T=0.0000 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1028 | A=0.4377 | C=0.5623, T=0.0000 |
Allele Frequency Aggregator | South Asian | Sub | 368 | A=0.359 | C=0.641, T=0.000 |
TopMed | Global | Study-wide | 264690 | A=0.458944 | C=0.541056 |
gnomAD - Genomes | Global | Study-wide | 140008 | A=0.433782 | C=0.566218 |
gnomAD - Genomes | European | Sub | 75864 | A=0.27272 | C=0.72728 |
gnomAD - Genomes | African | Sub | 41924 | A=0.74005 | C=0.25995 |
gnomAD - Genomes | American | Sub | 13636 | A=0.43855 | C=0.56145 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | A=0.2830 | C=0.7170 |
gnomAD - Genomes | East Asian | Sub | 3118 | A=0.3842 | C=0.6158 |
gnomAD - Genomes | Other | Sub | 2144 | A=0.4193 | C=0.5807 |
The PAGE Study | Global | Study-wide | 78702 | A=0.56681 | C=0.43319 |
The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.72324 | C=0.27676 |
The PAGE Study | Mexican | Sub | 10810 | A=0.48788 | C=0.51212 |
The PAGE Study | Asian | Sub | 8318 | A=0.4482 | C=0.5518 |
The PAGE Study | PuertoRican | Sub | 7918 | A=0.4923 | C=0.5077 |
The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.2821 | C=0.7179 |
The PAGE Study | Cuban | Sub | 4230 | A=0.3865 | C=0.6135 |
The PAGE Study | Dominican | Sub | 3828 | A=0.5387 | C=0.4613 |
The PAGE Study | CentralAmerican | Sub | 2450 | A=0.5580 | C=0.4420 |
The PAGE Study | SouthAmerican | Sub | 1982 | A=0.5010 | C=0.4990 |
The PAGE Study | NativeAmerican | Sub | 1260 | A=0.4119 | C=0.5881 |
The PAGE Study | SouthAsian | Sub | 856 | A=0.394 | C=0.606 |
14KJPN | JAPANESE | Study-wide | 28256 | A=0.46068 | C=0.53932 |
ExAC | Global | Study-wide | 22504 | A=0.34567 | C=0.65433 |
ExAC | Europe | Sub | 11396 | A=0.26843 | C=0.73157 |
ExAC | Asian | Sub | 8620 | A=0.3703 | C=0.6297 |
ExAC | African | Sub | 1732 | A=0.7275 | C=0.2725 |
ExAC | American | Sub | 486 | A=0.405 | C=0.595 |
ExAC | Other | Sub | 270 | A=0.263 | C=0.737 |
8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.45829 | C=0.54171 |
1000Genomes_30x | Global | Study-wide | 6404 | A=0.5053 | C=0.4947 |
1000Genomes_30x | African | Sub | 1786 | A=0.8102 | C=0.1898 |
1000Genomes_30x | Europe | Sub | 1266 | A=0.2599 | C=0.7401 |
1000Genomes_30x | South Asian | Sub | 1202 | A=0.4201 | C=0.5799 |
1000Genomes_30x | East Asian | Sub | 1170 | A=0.3966 | C=0.6034 |
1000Genomes_30x | American | Sub | 980 | A=0.501 | C=0.499 |
1000Genomes | Global | Study-wide | 5008 | A=0.4962 | C=0.5038 |
1000Genomes | African | Sub | 1322 | A=0.8132 | C=0.1868 |
1000Genomes | East Asian | Sub | 1008 | A=0.3948 | C=0.6052 |
1000Genomes | Europe | Sub | 1006 | A=0.2624 | C=0.7376 |
1000Genomes | South Asian | Sub | 978 | A=0.420 | C=0.580 |
1000Genomes | American | Sub | 694 | A=0.486 | C=0.514 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.2685 | C=0.7315 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.2709 | C=0.7291 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.2807 | C=0.7193 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.4502 | C=0.5498 |
HapMap | Global | Study-wide | 1890 | A=0.5180 | C=0.4820 |
HapMap | American | Sub | 768 | A=0.366 | C=0.634 |
HapMap | African | Sub | 692 | A=0.814 | C=0.186 |
HapMap | Asian | Sub | 254 | A=0.378 | C=0.622 |
HapMap | Europe | Sub | 176 | A=0.222 | C=0.778 |
Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.4694 | C=0.5306 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1128 | A=0.2952 | C=0.7048 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 624 | A=0.269 | C=0.731 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 142 | A=0.275 | C=0.725 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=0.320 | C=0.680 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.306 | C=0.694 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 96 | A=0.41 | C=0.59 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.42 | C=0.58 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.242 | C=0.758 |
CNV burdens in cranial meningiomas | Global | Study-wide | 790 | A=0.391 | C=0.609 |
CNV burdens in cranial meningiomas | CRM | Sub | 790 | A=0.391 | C=0.609 |
Northern Sweden | ACPOP | Study-wide | 600 | A=0.233 | C=0.767 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.301 | C=0.699 |
SGDP_PRJ | Global | Study-wide | 440 | A=0.273 | C=0.727 |
Qatari | Global | Study-wide | 216 | A=0.440 | C=0.560 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 216 | A=0.421 | C=0.579 |
Siberian | Global | Study-wide | 44 | A=0.34 | C=0.66 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 42 | A=0.48 | C=0.52 |
The Danish reference pan genome | Danish | Study-wide | 40 | A=0.47 | C=0.53 |
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 1 | NC_000001.11:g.222650187A>C |
GRCh38.p14 chr 1 | NC_000001.11:g.222650187A>G |
GRCh38.p14 chr 1 | NC_000001.11:g.222650187A>T |
GRCh37.p13 chr 1 | NC_000001.10:g.222823529A>C |
GRCh37.p13 chr 1 | NC_000001.10:g.222823529A>G |
GRCh37.p13 chr 1 | NC_000001.10:g.222823529A>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
MIA3 transcript variant 2 |
NM_001300867.2:c.266-105A… NM_001300867.2:c.266-105A>C |
N/A | Intron Variant |
MIA3 transcript variant 3 |
NM_001324062.2:c.3632-105… NM_001324062.2:c.3632-105A>C |
N/A | Intron Variant |
MIA3 transcript variant 4 |
NM_001324063.2:c.3632-105… NM_001324063.2:c.3632-105A>C |
N/A | Intron Variant |
MIA3 transcript variant 5 |
NM_001324064.2:c.3140-105… NM_001324064.2:c.3140-105A>C |
N/A | Intron Variant |
MIA3 transcript variant 6 |
NM_001324065.2:c.266-105A… NM_001324065.2:c.266-105A>C |
N/A | Intron Variant |
MIA3 transcript variant 1 | NM_198551.4:c.3632-105A>C | N/A | Intron Variant |
MIA3 transcript variant X1 |
XM_006711304.5:c.3632-105… XM_006711304.5:c.3632-105A>C |
N/A | Intron Variant |
MIA3 transcript variant X3 |
XM_011509513.4:c.3632-105… XM_011509513.4:c.3632-105A>C |
N/A | Intron Variant |
MIA3 transcript variant X2 |
XM_017001243.3:c.3140-105… XM_017001243.3:c.3140-105A>C |
N/A | Intron Variant |
MIA3 transcript variant X4 |
XM_047419783.1:c.266-105A… XM_047419783.1:c.266-105A>C |
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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV002245538.1 | Coronary artery disorder | Benign |
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= | C | G | T |
---|---|---|---|---|
GRCh38.p14 chr 1 | NC_000001.11:g.222650187= | NC_000001.11:g.222650187A>C | NC_000001.11:g.222650187A>G | NC_000001.11:g.222650187A>T |
GRCh37.p13 chr 1 | NC_000001.10:g.222823529= | NC_000001.10:g.222823529A>C | NC_000001.10:g.222823529A>G | NC_000001.10:g.222823529A>T |
MIA3 transcript variant 2 | NM_001300867.2:c.266-105= | NM_001300867.2:c.266-105A>C | NM_001300867.2:c.266-105A>G | NM_001300867.2:c.266-105A>T |
MIA3 transcript variant 3 | NM_001324062.2:c.3632-105= | NM_001324062.2:c.3632-105A>C | NM_001324062.2:c.3632-105A>G | NM_001324062.2:c.3632-105A>T |
MIA3 transcript variant 4 | NM_001324063.2:c.3632-105= | NM_001324063.2:c.3632-105A>C | NM_001324063.2:c.3632-105A>G | NM_001324063.2:c.3632-105A>T |
MIA3 transcript variant 5 | NM_001324064.2:c.3140-105= | NM_001324064.2:c.3140-105A>C | NM_001324064.2:c.3140-105A>G | NM_001324064.2:c.3140-105A>T |
MIA3 transcript variant 6 | NM_001324065.2:c.266-105= | NM_001324065.2:c.266-105A>C | NM_001324065.2:c.266-105A>G | NM_001324065.2:c.266-105A>T |
MIA3 transcript | NM_198551.2:c.3632-105= | NM_198551.2:c.3632-105A>C | NM_198551.2:c.3632-105A>G | NM_198551.2:c.3632-105A>T |
MIA3 transcript variant 1 | NM_198551.4:c.3632-105= | NM_198551.4:c.3632-105A>C | NM_198551.4:c.3632-105A>G | NM_198551.4:c.3632-105A>T |
MIA3 transcript variant X1 | XM_005273121.1:c.3632-105= | XM_005273121.1:c.3632-105A>C | XM_005273121.1:c.3632-105A>G | XM_005273121.1:c.3632-105A>T |
MIA3 transcript variant X2 | XM_005273122.1:c.266-105= | XM_005273122.1:c.266-105A>C | XM_005273122.1:c.266-105A>G | XM_005273122.1:c.266-105A>T |
MIA3 transcript variant X1 | XM_006711304.5:c.3632-105= | XM_006711304.5:c.3632-105A>C | XM_006711304.5:c.3632-105A>G | XM_006711304.5:c.3632-105A>T |
MIA3 transcript variant X3 | XM_011509513.4:c.3632-105= | XM_011509513.4:c.3632-105A>C | XM_011509513.4:c.3632-105A>G | XM_011509513.4:c.3632-105A>T |
MIA3 transcript variant X2 | XM_017001243.3:c.3140-105= | XM_017001243.3:c.3140-105A>C | XM_017001243.3:c.3140-105A>G | XM_017001243.3:c.3140-105A>T |
MIA3 transcript variant X4 | XM_047419783.1:c.266-105= | XM_047419783.1:c.266-105A>C | XM_047419783.1:c.266-105A>G | XM_047419783.1:c.266-105A>T |
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 | PERLEGEN | ss24256033 | Sep 20, 2004 (123) |
2 | ABI | ss41218461 | Mar 15, 2006 (126) |
3 | PERLEGEN | ss68794421 | May 17, 2007 (127) |
4 | KRIBB_YJKIM | ss83248087 | Dec 15, 2007 (130) |
5 | BCMHGSC_JDW | ss87983789 | Mar 23, 2008 (129) |
6 | HUMANGENOME_JCVI | ss98006415 | Feb 05, 2009 (130) |
7 | BGI | ss106635100 | Feb 05, 2009 (130) |
8 | 1000GENOMES | ss108981038 | Jan 23, 2009 (130) |
9 | ENSEMBL | ss138160930 | Dec 01, 2009 (131) |
10 | ENSEMBL | ss139057668 | Dec 01, 2009 (131) |
11 | GMI | ss156334918 | Dec 01, 2009 (131) |
12 | ILLUMINA | ss160444544 | Dec 01, 2009 (131) |
13 | COMPLETE_GENOMICS | ss165839878 | Jul 04, 2010 (132) |
14 | COMPLETE_GENOMICS | ss167530796 | Jul 04, 2010 (132) |
15 | PAGE_STUDY | ss181341920 | Jul 04, 2010 (132) |
16 | BCM-HGSC-SUB | ss205218125 | Jul 04, 2010 (132) |
17 | 1000GENOMES | ss210749370 | Jul 14, 2010 (132) |
18 | 1000GENOMES | ss218904102 | Jul 14, 2010 (132) |
19 | 1000GENOMES | ss230919391 | Jul 14, 2010 (132) |
20 | 1000GENOMES | ss238528354 | Jul 15, 2010 (132) |
21 | ILLUMINA | ss244283742 | Jul 04, 2010 (132) |
22 | BL | ss253850309 | May 09, 2011 (134) |
23 | GMI | ss276233435 | May 04, 2012 (137) |
24 | GMI | ss284236289 | Apr 25, 2013 (138) |
25 | PJP | ss290742391 | May 09, 2011 (134) |
26 | ILLUMINA | ss410913876 | Sep 17, 2011 (135) |
27 | ILLUMINA | ss480243436 | May 04, 2012 (137) |
28 | ILLUMINA | ss480254248 | May 04, 2012 (137) |
29 | ILLUMINA | ss480994233 | Sep 08, 2015 (146) |
30 | ILLUMINA | ss484919670 | May 04, 2012 (137) |
31 | EXOME_CHIP | ss491311089 | May 04, 2012 (137) |
32 | CLINSEQ_SNP | ss491615734 | May 04, 2012 (137) |
33 | ILLUMINA | ss536970187 | Sep 08, 2015 (146) |
34 | TISHKOFF | ss555164425 | Apr 25, 2013 (138) |
35 | SSMP | ss648730989 | Apr 25, 2013 (138) |
36 | ILLUMINA | ss778461498 | Sep 08, 2015 (146) |
37 | ILLUMINA | ss780682482 | Sep 08, 2015 (146) |
38 | ILLUMINA | ss782906160 | Sep 08, 2015 (146) |
39 | ILLUMINA | ss783355834 | Sep 08, 2015 (146) |
40 | ILLUMINA | ss783869442 | Sep 08, 2015 (146) |
41 | ILLUMINA | ss832161031 | Sep 08, 2015 (146) |
42 | ILLUMINA | ss833917206 | Sep 08, 2015 (146) |
43 | EVA-GONL | ss976188465 | Aug 21, 2014 (142) |
44 | JMKIDD_LAB | ss1068635239 | Aug 21, 2014 (142) |
45 | 1000GENOMES | ss1294813219 | Aug 21, 2014 (142) |
46 | HAMMER_LAB | ss1397273806 | Sep 08, 2015 (146) |
47 | DDI | ss1426124439 | Apr 01, 2015 (144) |
48 | EVA_GENOME_DK | ss1574707844 | Apr 01, 2015 (144) |
49 | EVA_DECODE | ss1585585649 | Apr 01, 2015 (144) |
50 | EVA_UK10K_ALSPAC | ss1602227903 | Apr 01, 2015 (144) |
51 | EVA_UK10K_TWINSUK | ss1645221936 | Apr 01, 2015 (144) |
52 | EVA_EXAC | ss1686067841 | Apr 01, 2015 (144) |
53 | EVA_MGP | ss1710944572 | Apr 01, 2015 (144) |
54 | EVA_SVP | ss1712408647 | Apr 01, 2015 (144) |
55 | ILLUMINA | ss1751900811 | Sep 08, 2015 (146) |
56 | ILLUMINA | ss1751900812 | Sep 08, 2015 (146) |
57 | ILLUMINA | ss1917742730 | Feb 12, 2016 (147) |
58 | WEILL_CORNELL_DGM | ss1919410636 | Feb 12, 2016 (147) |
59 | ILLUMINA | ss1946024392 | Feb 12, 2016 (147) |
60 | ILLUMINA | ss1958360573 | Feb 12, 2016 (147) |
61 | GENOMED | ss1966983768 | Jul 19, 2016 (147) |
62 | JJLAB | ss2020229325 | Sep 14, 2016 (149) |
63 | ILLUMINA | ss2094786768 | Dec 20, 2016 (150) |
64 | ILLUMINA | ss2095001819 | Dec 20, 2016 (150) |
65 | USC_VALOUEV | ss2148261244 | Dec 20, 2016 (150) |
66 | HUMAN_LONGEVITY | ss2170427042 | Dec 20, 2016 (150) |
67 | SYSTEMSBIOZJU | ss2624625349 | Nov 08, 2017 (151) |
68 | ILLUMINA | ss2632634678 | Nov 08, 2017 (151) |
69 | ILLUMINA | ss2632634679 | Nov 08, 2017 (151) |
70 | GRF | ss2698257173 | Nov 08, 2017 (151) |
71 | ILLUMINA | ss2710695598 | Nov 08, 2017 (151) |
72 | GNOMAD | ss2732294085 | Nov 08, 2017 (151) |
73 | GNOMAD | ss2746567315 | Nov 08, 2017 (151) |
74 | GNOMAD | ss2766670499 | Nov 08, 2017 (151) |
75 | AFFY | ss2984895305 | Nov 08, 2017 (151) |
76 | AFFY | ss2985539667 | Nov 08, 2017 (151) |
77 | SWEGEN | ss2988516901 | Nov 08, 2017 (151) |
78 | ILLUMINA | ss3021184094 | Nov 08, 2017 (151) |
79 | BIOINF_KMB_FNS_UNIBA | ss3023875034 | Nov 08, 2017 (151) |
80 | CSHL | ss3343931007 | Nov 08, 2017 (151) |
81 | ILLUMINA | ss3626318054 | Oct 11, 2018 (152) |
82 | ILLUMINA | ss3626318055 | Oct 11, 2018 (152) |
83 | ILLUMINA | ss3630664246 | Oct 11, 2018 (152) |
84 | ILLUMINA | ss3632927012 | Oct 11, 2018 (152) |
85 | ILLUMINA | ss3633623108 | Oct 11, 2018 (152) |
86 | ILLUMINA | ss3634374863 | Oct 11, 2018 (152) |
87 | ILLUMINA | ss3634374864 | Oct 11, 2018 (152) |
88 | ILLUMINA | ss3635316176 | Oct 11, 2018 (152) |
89 | ILLUMINA | ss3636053813 | Oct 11, 2018 (152) |
90 | ILLUMINA | ss3637066724 | Oct 11, 2018 (152) |
91 | ILLUMINA | ss3640082216 | Oct 11, 2018 (152) |
92 | ILLUMINA | ss3640082217 | Oct 11, 2018 (152) |
93 | ILLUMINA | ss3640993174 | Oct 11, 2018 (152) |
94 | ILLUMINA | ss3641287304 | Oct 11, 2018 (152) |
95 | ILLUMINA | ss3644520394 | Oct 11, 2018 (152) |
96 | OMUKHERJEE_ADBS | ss3646253714 | Oct 11, 2018 (152) |
97 | URBANLAB | ss3646895952 | Oct 11, 2018 (152) |
98 | ILLUMINA | ss3651529482 | Oct 11, 2018 (152) |
99 | ILLUMINA | ss3651529483 | Oct 11, 2018 (152) |
100 | ILLUMINA | ss3653665229 | Oct 11, 2018 (152) |
101 | EGCUT_WGS | ss3656478216 | Jul 12, 2019 (153) |
102 | EVA_DECODE | ss3688708325 | Jul 12, 2019 (153) |
103 | ILLUMINA | ss3725109280 | Jul 12, 2019 (153) |
104 | ACPOP | ss3727898553 | Jul 12, 2019 (153) |
105 | ILLUMINA | ss3744360489 | Jul 12, 2019 (153) |
106 | ILLUMINA | ss3744675723 | Jul 12, 2019 (153) |
107 | ILLUMINA | ss3744675724 | Jul 12, 2019 (153) |
108 | EVA | ss3747386010 | Jul 12, 2019 (153) |
109 | PAGE_CC | ss3770874724 | Jul 12, 2019 (153) |
110 | ILLUMINA | ss3772176618 | Jul 12, 2019 (153) |
111 | ILLUMINA | ss3772176619 | Jul 12, 2019 (153) |
112 | PACBIO | ss3783698505 | Jul 12, 2019 (153) |
113 | PACBIO | ss3789309046 | Jul 12, 2019 (153) |
114 | PACBIO | ss3794181405 | Jul 12, 2019 (153) |
115 | KHV_HUMAN_GENOMES | ss3800389198 | Jul 12, 2019 (153) |
116 | EVA | ss3825588644 | Apr 25, 2020 (154) |
117 | EVA | ss3826665165 | Apr 25, 2020 (154) |
118 | EVA | ss3836733294 | Apr 25, 2020 (154) |
119 | EVA | ss3842145348 | Apr 25, 2020 (154) |
120 | SGDP_PRJ | ss3850981054 | Apr 25, 2020 (154) |
121 | KRGDB | ss3896304661 | Apr 25, 2020 (154) |
122 | KOGIC | ss3946570643 | Apr 25, 2020 (154) |
123 | FSA-LAB | ss3983963951 | Apr 25, 2021 (155) |
124 | FSA-LAB | ss3983963952 | Apr 25, 2021 (155) |
125 | EVA | ss3984472655 | Apr 25, 2021 (155) |
126 | EVA | ss3984854721 | Apr 25, 2021 (155) |
127 | EVA | ss3986160013 | Apr 25, 2021 (155) |
128 | TOPMED | ss4485012044 | Apr 25, 2021 (155) |
129 | TOMMO_GENOMICS | ss5148611837 | Apr 25, 2021 (155) |
130 | 1000G_HIGH_COVERAGE | ss5245935917 | Oct 13, 2022 (156) |
131 | EVA | ss5314685583 | Oct 13, 2022 (156) |
132 | HUGCELL_USP | ss5446360690 | Oct 13, 2022 (156) |
133 | EVA | ss5506202403 | Oct 13, 2022 (156) |
134 | 1000G_HIGH_COVERAGE | ss5520107604 | Oct 13, 2022 (156) |
135 | EVA | ss5624003334 | Oct 13, 2022 (156) |
136 | SANFORD_IMAGENETICS | ss5624231088 | Oct 13, 2022 (156) |
137 | SANFORD_IMAGENETICS | ss5627528394 | Oct 13, 2022 (156) |
138 | TOMMO_GENOMICS | ss5676422490 | Oct 13, 2022 (156) |
139 | EVA | ss5799512959 | Oct 13, 2022 (156) |
140 | EVA | ss5800090188 | Oct 13, 2022 (156) |
141 | YY_MCH | ss5801673303 | Oct 13, 2022 (156) |
142 | EVA | ss5833318570 | Oct 13, 2022 (156) |
143 | EVA | ss5847175295 | Oct 13, 2022 (156) |
144 | EVA | ss5847575502 | Oct 13, 2022 (156) |
145 | EVA | ss5848286355 | Oct 13, 2022 (156) |
146 | EVA | ss5849302624 | Oct 13, 2022 (156) |
147 | EVA | ss5912139074 | Oct 13, 2022 (156) |
148 | EVA | ss5936514032 | Oct 13, 2022 (156) |
149 | EVA | ss5939371217 | Oct 13, 2022 (156) |
150 | EVA | ss5979306314 | Oct 13, 2022 (156) |
151 | EVA | ss5980016911 | Oct 13, 2022 (156) |
152 | EVA | ss5981201043 | Oct 13, 2022 (156) |
153 | 1000Genomes | NC_000001.10 - 222823529 | Oct 11, 2018 (152) |
154 | 1000Genomes_30x | NC_000001.11 - 222650187 | Oct 13, 2022 (156) |
155 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 222823529 | Oct 11, 2018 (152) |
156 | Genome-wide autozygosity in Daghestan | NC_000001.9 - 220890152 | Apr 25, 2020 (154) |
157 | Genetic variation in the Estonian population | NC_000001.10 - 222823529 | Oct 11, 2018 (152) |
158 | ExAC | NC_000001.10 - 222823529 | Oct 11, 2018 (152) |
159 | The Danish reference pan genome | NC_000001.10 - 222823529 | Apr 25, 2020 (154) |
160 | gnomAD - Genomes | NC_000001.11 - 222650187 | Apr 25, 2021 (155) |
161 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 12, 2019 (153) |
162 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 12, 2019 (153) |
163 | Genome of the Netherlands Release 5 | NC_000001.10 - 222823529 | Apr 25, 2020 (154) |
164 | HapMap | NC_000001.11 - 222650187 | Apr 25, 2020 (154) |
165 | KOREAN population from KRGDB | NC_000001.10 - 222823529 | Apr 25, 2020 (154) |
166 | Korean Genome Project | NC_000001.11 - 222650187 | Apr 25, 2020 (154) |
167 | Medical Genome Project healthy controls from Spanish population | NC_000001.10 - 222823529 | Apr 25, 2020 (154) |
168 | Northern Sweden | NC_000001.10 - 222823529 | Jul 12, 2019 (153) |
169 | The PAGE Study | NC_000001.11 - 222650187 | Jul 12, 2019 (153) |
170 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000001.10 - 222823529 | Apr 25, 2021 (155) |
171 | CNV burdens in cranial meningiomas | NC_000001.10 - 222823529 | Apr 25, 2021 (155) |
172 | Qatari | NC_000001.10 - 222823529 | Apr 25, 2020 (154) |
173 | SGDP_PRJ | NC_000001.10 - 222823529 | Apr 25, 2020 (154) |
174 | Siberian | NC_000001.10 - 222823529 | Apr 25, 2020 (154) |
175 | 8.3KJPN | NC_000001.10 - 222823529 | Apr 25, 2021 (155) |
176 | 14KJPN | NC_000001.11 - 222650187 | Oct 13, 2022 (156) |
177 | TopMed | NC_000001.11 - 222650187 | Apr 25, 2021 (155) |
178 | UK 10K study - Twins | NC_000001.10 - 222823529 | Oct 11, 2018 (152) |
179 | A Vietnamese Genetic Variation Database | NC_000001.10 - 222823529 | Jul 12, 2019 (153) |
180 | ALFA | NC_000001.11 - 222650187 | Apr 25, 2021 (155) |
181 | ClinVar | RCV002245538.1 | Oct 13, 2022 (156) |
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) |
---|---|
rs59865390 | Feb 26, 2009 (130) |
rs111195493 | Aug 21, 2014 (142) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
34918, ss87983789, ss108981038, ss165839878, ss167530796, ss205218125, ss210749370, ss253850309, ss276233435, ss284236289, ss290742391, ss480243436, ss491615734, ss1397273806, ss1585585649, ss1712408647 | NC_000001.9:220890151:A:C | NC_000001.11:222650186:A:C | (self) |
5673467, 3135324, 2216464, 5305259, 1902717, 1370804, 3482055, 61324, 1183418, 80648, 21976, 1452566, 2998034, 777598, 6581144, 3135324, 680235, ss218904102, ss230919391, ss238528354, ss480254248, ss480994233, ss484919670, ss491311089, ss536970187, ss555164425, ss648730989, ss778461498, ss780682482, ss782906160, ss783355834, ss783869442, ss832161031, ss833917206, ss976188465, ss1068635239, ss1294813219, ss1426124439, ss1574707844, ss1602227903, ss1645221936, ss1686067841, ss1710944572, ss1751900811, ss1751900812, ss1917742730, ss1919410636, ss1946024392, ss1958360573, ss1966983768, ss2020229325, ss2094786768, ss2095001819, ss2148261244, ss2624625349, ss2632634678, ss2632634679, ss2698257173, ss2710695598, ss2732294085, ss2746567315, ss2766670499, ss2984895305, ss2985539667, ss2988516901, ss3021184094, ss3343931007, ss3626318054, ss3626318055, ss3630664246, ss3632927012, ss3633623108, ss3634374863, ss3634374864, ss3635316176, ss3636053813, ss3637066724, ss3640082216, ss3640082217, ss3640993174, ss3641287304, ss3644520394, ss3646253714, ss3651529482, ss3651529483, ss3653665229, ss3656478216, ss3727898553, ss3744360489, ss3744675723, ss3744675724, ss3747386010, ss3772176618, ss3772176619, ss3783698505, ss3789309046, ss3794181405, ss3825588644, ss3826665165, ss3836733294, ss3850981054, ss3896304661, ss3983963951, ss3983963952, ss3984472655, ss3984854721, ss3986160013, ss5148611837, ss5314685583, ss5506202403, ss5624003334, ss5624231088, ss5627528394, ss5799512959, ss5800090188, ss5833318570, ss5847175295, ss5847575502, ss5848286355, ss5936514032, ss5939371217, ss5979306314, ss5980016911, ss5981201043 | NC_000001.10:222823528:A:C | NC_000001.11:222650186:A:C | (self) |
7633539, 40747821, 277930, 2948644, 96193, 10259594, 48618379, 9436086559, ss2170427042, ss3023875034, ss3646895952, ss3688708325, ss3725109280, ss3770874724, ss3800389198, ss3842145348, ss3946570643, ss4485012044, ss5245935917, ss5446360690, ss5520107604, ss5676422490, ss5801673303, ss5849302624, ss5912139074 | NC_000001.11:222650186:A:C | NC_000001.11:222650186:A:C | (self) |
ss24256033, ss41218461, ss68794421, ss83248087, ss98006415, ss106635100, ss138160930, ss139057668, ss156334918, ss160444544, ss181341920, ss244283742, ss410913876 | NT_167186.1:16341307:A:C | NC_000001.11:222650186:A:C | (self) |
ss2732294085 | NC_000001.10:222823528:A:G | NC_000001.11:222650186:A:G | (self) |
RCV002245538.1 | NC_000001.11:222650186:A:G | NC_000001.11:222650186:A:G | |
9436086559 | NC_000001.11:222650186:A:T | NC_000001.11:222650186:A:T | (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 |
---|---|---|---|---|
17634449 | Genomewide association analysis of coronary artery disease. | Samani NJ et al. | 2007 | The New England journal of medicine |
18654002 | Validation of the association of genetic variants on chromosome 9p21 and 1q41 with myocardial infarction in a Japanese population. | Hiura Y et al. | 2008 | Circulation journal |
18979498 | The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts. | Karvanen J et al. | 2009 | Genetic epidemiology |
19164808 | Large scale association analysis of novel genetic loci for coronary artery disease. | Samani NJ et al. | 2009 | Arteriosclerosis, thrombosis, and vascular biology |
19198609 | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. | Kathiresan S et al. | 2009 | Nature genetics |
19207022 | Genome-wide association studies of coronary artery disease and heart failure: where are we going? | Dorn GW et al. | 2009 | Pharmacogenomics |
19750184 | Genome-wide association studies for atherosclerotic vascular disease and its risk factors. | Ding K et al. | 2009 | Circulation. Cardiovascular genetics |
19955471 | Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. | Bressler J et al. | 2010 | American journal of epidemiology |
19956433 | Genetics of coronary artery disease: focus on genome-wide association studies. | Baudhuin LM et al. | 2009 | American journal of translational research |
20017983 | Evaluation of population impact of candidate polymorphisms for coronary heart disease in the Framingham Heart Study Offspring Cohort. | Yan Y et al. | 2009 | BMC proceedings |
20098575 | Genetics and cardiovascular disease: Design and development of a DNA biobank. | Jayasinghe SR et al. | 2009 | Experimental and clinical cardiology |
20159871 | Association between a literature-based genetic risk score and cardiovascular events in women. | Paynter NP et al. | 2010 | JAMA |
20729558 | Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies. | Davies RW et al. | 2010 | Circulation. Cardiovascular genetics |
20835900 | Genetics of diabetes complications. | Doria A et al. | 2010 | Current diabetes reports |
20971364 | A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. | Ripatti S et al. | 2010 | Lancet (London, England) |
20981302 | Genome-wide association study of coronary artery disease. | Ogawa N et al. | 2010 | International journal of hypertension |
21239051 | Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. | Reilly MP et al. | 2011 | Lancet (London, England) |
21264445 | Extended evidence for association between the melanoma inhibitory activity 3 gene and myocardial infarction. | Koch W et al. | 2011 | Thrombosis and haemostasis |
21369780 | Genome-wide association studies in atherosclerosis. | Sivapalaratnam S et al. | 2011 | Current atherosclerosis reports |
21378990 | Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. | Schunkert H et al. | 2011 | Nature genetics |
21463265 | Association of SNP rs17465637 on chromosome 1q41 and rs599839 on 1p13.3 with myocardial infarction in an American caucasian population. | Wang AZ et al. | 2011 | Annals of human genetics |
21698238 | Replication of putative susceptibility loci from genome-wide association studies associated with coronary atherosclerosis in Chinese Han population. | Xie F et al. | 2011 | PloS one |
21804106 | Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. | Angelakopoulou A et al. | 2012 | European heart journal |
21860704 | Implications of discoveries from genome-wide association studies in current cardiovascular practice. | Jeemon P et al. | 2011 | World journal of cardiology |
21875899 | Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour. | Peden JF et al. | 2011 | Human molecular genetics |
21984477 | Genomic risk variants at 1p13.3, 1q41, and 3q22.3 are associated with subsequent cardiovascular outcomes in healthy controls and in established coronary artery disease. | Ellis KL et al. | 2011 | Circulation. Cardiovascular genetics |
22042884 | Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study. | Franceschini N et al. | 2011 | Circulation. Cardiovascular genetics |
22144573 | Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. | O'Donnell CJ et al. | 2011 | Circulation |
22152955 | Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies. | Qi L et al. | 2011 | Journal of the American College of Cardiology |
22199011 | Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies. | Murabito JM et al. | 2012 | Circulation. Cardiovascular genetics |
22295058 | Genetic profiling using genome-wide significant coronary artery disease risk variants does not improve the prediction of subclinical atherosclerosis: the Cardiovascular Risk in Young Finns Study, the Bogalusa Heart Study and the Health 2000 Survey--a meta-analysis of three independent studies. | Hernesniemi JA et al. | 2012 | PloS one |
22363065 | Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke? | Cheng YC et al. | 2012 | Stroke |
22429504 | Genetic predisposition to coronary heart disease and stroke using an additive genetic risk score: a population-based study in Greece. | Yiannakouris N et al. | 2012 | Atherosclerosis |
22577832 | Association study of MIA3 rs17465637 polymorphism with cardiovascular disease in rheumatoid arthritis patients. | García-Bermúdez M et al. | 2012 | DNA and cell biology |
22588700 | Genetics of coronary artery disease in the 21st century. | Roberts R et al. | 2012 | Clinical cardiology |
23024462 | Atherosclerosis and rheumatoid arthritis: more than a simple association. | Cavagna L et al. | 2012 | Mediators of inflammation |
23236363 | Meta-analyses of KIF6 Trp719Arg in coronary heart disease and statin therapeutic effect. | Peng P et al. | 2012 | PloS one |
23468967 | Improvement in prediction of coronary heart disease risk over conventional risk factors using SNPs identified in genome-wide association studies. | Bolton JL et al. | 2013 | PloS one |
24125424 | Meta-analysis identifies robust association between SNP rs17465637 in MIA3 on chromosome 1q41 and coronary artery disease. | Li X et al. | 2013 | Atherosclerosis |
24932356 | Genetics of coronary artery disease: an update. | Roberts R et al. | 2014 | Methodist DeBakey cardiovascular journal |
25542012 | Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study. | Franceschini N et al. | 2014 | PloS one |
26252781 | Potential Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11. | Zanetti D et al. | 2015 | PloS one |
26847647 | Experimental Biology for the Identification of Causal Pathways in Atherosclerosis. | Guo Y et al. | 2016 | Cardiovascular drugs and therapy |
26892960 | From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease. | Nurnberg ST et al. | 2016 | Circulation research |
26958643 | Detailed analysis of association between common single nucleotide polymorphisms and subclinical atherosclerosis: The Multi-ethnic Study of Atherosclerosis. | Vargas JD et al. | 2016 | Data in brief |
26971241 | Influence of Genetic Risk Factors on Coronary Heart Disease Occurrence in Afro-Caribbeans. | Larifla L et al. | 2016 | The Canadian journal of cardiology |
27189168 | The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease. | Kessler T et al. | 2016 | EMBO molecular medicine |
27294088 | Genetics of the acute coronary syndrome. | Franchini M et al. | 2016 | Annals of translational medicine |
27386434 | Zinc Finger 259 Gene Polymorphism rs964184 is Associated with Serum Triglyceride Levels and Metabolic Syndrome. | Mirhafez SR et al. | 2016 | International journal of molecular and cellular medicine |
27716211 | A 19-SNP coronary heart disease gene score profile in subjects with type 2 diabetes: the coronary heart disease risk in type 2 diabetes (CoRDia study) study baseline characteristics. | Beaney KE et al. | 2016 | Cardiovascular diabetology |
28088267 | A meta-analysis of three identified single nucleotide polymorphisms at 1p13.3 and 1q41 and their associations with lipid levels and coronary artery disease. | He QC et al. | 2017 | The Kaohsiung journal of medical sciences |
28167353 | Genetic risk analysis of coronary artery disease in Pakistani subjects using a genetic risk score of 21 variants. | Shahid SU et al. | 2017 | Atherosclerosis |
28400043 | Association of the genetic markers for myocardial infarction with sudden cardiac death. | Ivanova AA et al. | 2017 | Indian heart journal |
28686695 | Coronary artery disease-associated genetic variants and biomarkers of inflammation. | Christiansen MK et al. | 2017 | PloS one |
28705542 | Effect of Coronary Artery Disease risk SNPs on serum cytokine levels and cytokine imbalance in Premature Coronary Artery Disease. | Ansari WM et al. | 2019 | Cytokine |
28856136 | Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study. | Knowles JW et al. | 2017 | Frontiers in cardiovascular medicine |
29673405 | GWAS implicated risk variants in different genes contribute additively to increase the risk of coronary artery disease (CAD) in the Pakistani subjects. | Shahid SU et al. | 2018 | Lipids in health and disease |
29972410 | Genetic Risk Analysis of Coronary Artery Disease in a Population-based Study in Portugal, Using a Genetic Risk Score of 31 Variants. | Pereira A et al. | 2018 | Arquivos brasileiros de cardiologia |
30571812 | Additional value of a combined genetic risk score to standard cardiovascular stratification. | Pereira A et al. | 2018 | Genetics and molecular biology |
31804579 | The Mediterranean diet reduces the genetic risk of chromosome 9p21 for myocardial infarction in an Asian population community cohort. | Leu HB et al. | 2019 | Scientific reports |
31845553 | Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses. | Spiller W et al. | 2020 | Korean circulation journal |
32237974 | Statistical and Functional Studies Identify Epistasis of Cardiovascular Risk Genomic Variants From Genome-Wide Association Studies. | Li Y et al. | 2020 | Journal of the American Heart Association |
33581269 | Low HDL concentration in rs2048327-G carriers can predispose men to develop coronary heart disease: Tehran Cardiometabolic genetic study (TCGS). | Najd Hassan Bonab L et al. | 2021 | Gene |
34137427 | Genetic information improves the prediction of major adverse cardiovascular events in the GENEMACOR population. | Mendonça MI et al. | 2021 | Genetics and molecular biology |
34276231 | Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Marker. | Sousa JA et al. | 2021 | Clinical Medicine Insights. Cardiology |
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.