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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.

rs2904592

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:31492279 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.413623 (109482/264690, TOPMED)
C=0.419263 (58680/139960, GnomAD)
C=0.41607 (26535/63776, ALFA) (+ 10 more)
C=0.45516 (12862/28258, 14KJPN)
C=0.45227 (7580/16760, 8.3KJPN)
C=0.4019 (2574/6404, 1000G_30x)
C=0.4054 (2030/5008, 1000G)
C=0.3827 (1475/3854, ALSPAC)
C=0.3970 (1472/3708, TWINSUK)
T=0.4734 (1387/2930, KOREAN)
C=0.455 (454/998, GoNL)
T=0.326 (116/356, SGDP_PRJ)
C=0.287 (62/216, Qatari)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MICB-DT : Intron Variant
Publications
0 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 63776 T=0.58393 C=0.41607
European Sub 49722 T=0.58403 C=0.41597
African Sub 3786 T=0.5758 C=0.4242
African Others Sub 132 T=0.583 C=0.417
African American Sub 3654 T=0.5755 C=0.4245
Asian Sub 480 T=0.533 C=0.467
East Asian Sub 416 T=0.534 C=0.466
Other Asian Sub 64 T=0.53 C=0.47
Latin American 1 Sub 272 T=0.574 C=0.426
Latin American 2 Sub 4956 T=0.5938 C=0.4062
South Asian Sub 148 T=0.568 C=0.432
Other Sub 4412 T=0.5854 C=0.4146


Help

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 T=0.586377 C=0.413623
gnomAD - Genomes Global Study-wide 139960 T=0.580737 C=0.419263
gnomAD - Genomes European Sub 75818 T=0.58478 C=0.41522
gnomAD - Genomes African Sub 41904 T=0.57684 C=0.42316
gnomAD - Genomes American Sub 13640 T=0.60161 C=0.39839
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.5837 C=0.4163
gnomAD - Genomes East Asian Sub 3128 T=0.4255 C=0.5745
gnomAD - Genomes Other Sub 2150 T=0.6028 C=0.3972
Allele Frequency Aggregator Total Global 63776 T=0.58393 C=0.41607
Allele Frequency Aggregator European Sub 49722 T=0.58403 C=0.41597
Allele Frequency Aggregator Latin American 2 Sub 4956 T=0.5938 C=0.4062
Allele Frequency Aggregator Other Sub 4412 T=0.5854 C=0.4146
Allele Frequency Aggregator African Sub 3786 T=0.5758 C=0.4242
Allele Frequency Aggregator Asian Sub 480 T=0.533 C=0.467
Allele Frequency Aggregator Latin American 1 Sub 272 T=0.574 C=0.426
Allele Frequency Aggregator South Asian Sub 148 T=0.568 C=0.432
14KJPN JAPANESE Study-wide 28258 T=0.54484 C=0.45516
8.3KJPN JAPANESE Study-wide 16760 T=0.54773 C=0.45227
1000Genomes_30x Global Study-wide 6404 T=0.5981 C=0.4019
1000Genomes_30x African Sub 1786 T=0.6181 C=0.3819
1000Genomes_30x Europe Sub 1266 T=0.6343 C=0.3657
1000Genomes_30x South Asian Sub 1202 T=0.6780 C=0.3220
1000Genomes_30x East Asian Sub 1170 T=0.4393 C=0.5607
1000Genomes_30x American Sub 980 T=0.606 C=0.394
1000Genomes Global Study-wide 5008 T=0.5946 C=0.4054
1000Genomes African Sub 1322 T=0.6097 C=0.3903
1000Genomes East Asian Sub 1008 T=0.4454 C=0.5546
1000Genomes Europe Sub 1006 T=0.6322 C=0.3678
1000Genomes South Asian Sub 978 T=0.674 C=0.326
1000Genomes American Sub 694 T=0.617 C=0.383
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6173 C=0.3827
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6030 C=0.3970
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4734 A=0.0000, C=0.5266
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.545 C=0.455
SGDP_PRJ Global Study-wide 356 T=0.326 C=0.674
Qatari Global Study-wide 216 T=0.713 C=0.287
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 6 NC_000006.12:g.31492279T>A
GRCh38.p14 chr 6 NC_000006.12:g.31492279T>C
GRCh37.p13 chr 6 NC_000006.11:g.31460056T>A
GRCh37.p13 chr 6 NC_000006.11:g.31460056T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2969620C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2969620C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2969726C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2969726C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2748160T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2748160T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2753756T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2753756T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2739887T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2739887T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2745472T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2745472T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2791556C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2791556C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2790854C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2790854C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2834234C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2834234C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2839819C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2839819C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.2824847T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.2824847T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.2774763T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.2774763T>C
Gene: MICB-DT, MICB divergent transcript (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MICB-DT transcript NR_149132.1:n. N/A Intron 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 T= A C
GRCh38.p14 chr 6 NC_000006.12:g.31492279= NC_000006.12:g.31492279T>A NC_000006.12:g.31492279T>C
GRCh37.p13 chr 6 NC_000006.11:g.31460056= NC_000006.11:g.31460056T>A NC_000006.11:g.31460056T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.2969620C>T NT_113891.3:g.2969620C>A NT_113891.3:g.2969620=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.2969726C>T NT_113891.2:g.2969726C>A NT_113891.2:g.2969726=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2748160= NT_167248.2:g.2748160T>A NT_167248.2:g.2748160T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2753756= NT_167248.1:g.2753756T>A NT_167248.1:g.2753756T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2739887= NT_167245.2:g.2739887T>A NT_167245.2:g.2739887T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2745472= NT_167245.1:g.2745472T>A NT_167245.1:g.2745472T>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2791556C>T NT_167249.2:g.2791556C>A NT_167249.2:g.2791556=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2790854C>T NT_167249.1:g.2790854C>A NT_167249.1:g.2790854=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2834234C>T NT_167247.2:g.2834234C>A NT_167247.2:g.2834234=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2839819C>T NT_167247.1:g.2839819C>A NT_167247.1:g.2839819=
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.2824847= NT_167244.2:g.2824847T>A NT_167244.2:g.2824847T>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.2774763= NT_167244.1:g.2774763T>A NT_167244.1:g.2774763T>C
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#.

74 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4099277 Nov 05, 2001 (101)
2 TSC-CSHL ss5248473 Oct 10, 2002 (117)
3 SI_MHC_SNP ss12691116 Oct 31, 2003 (119)
4 BCM_SSAHASNP ss14275389 Dec 05, 2003 (119)
5 SSAHASNP ss22412735 Apr 05, 2004 (121)
6 ABI ss42868985 Mar 14, 2006 (126)
7 HGSV ss77574848 Dec 07, 2007 (129)
8 HGSV ss80109862 Dec 15, 2007 (130)
9 BCMHGSC_JDW ss93436289 Mar 24, 2008 (129)
10 BGI ss105991038 Feb 06, 2009 (130)
11 1000GENOMES ss114143388 Jan 25, 2009 (137)
12 ILLUMINA-UK ss116394096 Feb 14, 2009 (130)
13 ENSEMBL ss139663019 Dec 01, 2009 (137)
14 GMI ss156745558 Dec 01, 2009 (137)
15 ILLUMINA ss160597653 Dec 01, 2009 (137)
16 COMPLETE_GENOMICS ss162197316 Jul 04, 2010 (135)
17 COMPLETE_GENOMICS ss163346978 Jul 04, 2010 (135)
18 BUSHMAN ss201624700 Jul 04, 2010 (135)
19 1000GENOMES ss222303729 Jul 14, 2010 (137)
20 1000GENOMES ss233398749 Jul 14, 2010 (137)
21 1000GENOMES ss240469492 Jul 15, 2010 (137)
22 BL ss254186135 May 09, 2011 (137)
23 GMI ss278726507 May 04, 2012 (137)
24 GMI ss285373932 Apr 25, 2013 (138)
25 PJP ss293825669 May 09, 2011 (137)
26 ILLUMINA ss481605017 Sep 08, 2015 (146)
27 ILLUMINA ss537147461 Sep 08, 2015 (146)
28 TISHKOFF ss559113732 Apr 25, 2013 (138)
29 SSMP ss653034866 Apr 25, 2013 (138)
30 ILLUMINA ss778702396 Sep 08, 2015 (146)
31 ILLUMINA ss834161389 Sep 08, 2015 (146)
32 EVA-GONL ss982765391 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1073505376 Aug 21, 2014 (142)
34 1000GENOMES ss1319556543 Aug 21, 2014 (142)
35 EVA_UK10K_ALSPAC ss1615276529 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1658270562 Apr 01, 2015 (144)
37 HAMMER_LAB ss1804357829 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1926017832 Feb 12, 2016 (147)
39 GENOMED ss1970357262 Jul 19, 2016 (147)
40 SYSTEMSBIOZJU ss2626308243 Nov 08, 2017 (151)
41 ILLUMINA ss2634429649 Nov 08, 2017 (151)
42 GRF ss2707402018 Nov 08, 2017 (151)
43 ILLUMINA ss2711069444 Nov 08, 2017 (151)
44 AFFY ss2985361785 Nov 08, 2017 (151)
45 SWEGEN ss2998795068 Nov 08, 2017 (151)
46 ILLUMINA ss3629503072 Oct 12, 2018 (152)
47 ILLUMINA ss3632348263 Oct 12, 2018 (152)
48 ILLUMINA ss3636778016 Oct 12, 2018 (152)
49 URBANLAB ss3648309817 Oct 12, 2018 (152)
50 EVA ss3764821851 Jul 13, 2019 (153)
51 PACBIO ss3785425398 Jul 13, 2019 (153)
52 PACBIO ss3790784840 Jul 13, 2019 (153)
53 PACBIO ss3795662357 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3807977243 Jul 13, 2019 (153)
55 EVA ss3838394434 Apr 26, 2020 (154)
56 EVA ss3843836609 Apr 26, 2020 (154)
57 SGDP_PRJ ss3864254071 Apr 26, 2020 (154)
58 KRGDB ss3911028774 Apr 26, 2020 (154)
59 VINODS ss4025188422 Apr 26, 2021 (155)
60 VINODS ss4025247845 Apr 26, 2021 (155)
61 VINODS ss4025287422 Apr 26, 2021 (155)
62 TOPMED ss4698376953 Apr 26, 2021 (155)
63 TOMMO_GENOMICS ss5176835143 Apr 26, 2021 (155)
64 1000G_HIGH_COVERAGE ss5267935319 Oct 17, 2022 (156)
65 EVA ss5315142095 Oct 17, 2022 (156)
66 EVA ss5364720467 Oct 17, 2022 (156)
67 EVA ss5508427943 Oct 17, 2022 (156)
68 1000G_HIGH_COVERAGE ss5553591050 Oct 17, 2022 (156)
69 SANFORD_IMAGENETICS ss5640088730 Oct 17, 2022 (156)
70 TOMMO_GENOMICS ss5714689434 Oct 17, 2022 (156)
71 YY_MCH ss5807306975 Oct 17, 2022 (156)
72 EVA ss5842026210 Oct 17, 2022 (156)
73 EVA ss5883242508 Oct 17, 2022 (156)
74 EVA ss5968590540 Oct 17, 2022 (156)
75 1000Genomes NC_000006.11 - 31460056 Oct 12, 2018 (152)
76 1000Genomes_30x NC_000006.12 - 31492279 Oct 17, 2022 (156)
77 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 31460056 Oct 12, 2018 (152)
78 gnomAD - Genomes NC_000006.12 - 31492279 Apr 26, 2021 (155)
79 Genome of the Netherlands Release 5 NC_000006.11 - 31460056 Apr 26, 2020 (154)
80 KOREAN population from KRGDB NC_000006.11 - 31460056 Apr 26, 2020 (154)
81 Qatari NC_000006.11 - 31460056 Apr 26, 2020 (154)
82 SGDP_PRJ NC_000006.11 - 31460056 Apr 26, 2020 (154)
83 8.3KJPN NC_000006.11 - 31460056 Apr 26, 2021 (155)
84 14KJPN NC_000006.12 - 31492279 Oct 17, 2022 (156)
85 TopMed NC_000006.12 - 31492279 Apr 26, 2021 (155)
86 UK 10K study - Twins NC_000006.11 - 31460056 Oct 12, 2018 (152)
87 ALFA NC_000006.12 - 31492279 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)
rs3957120 Aug 27, 2003 (117)
rs9267317 Dec 04, 2003 (119)
rs60168564 May 25, 2008 (130)
rs78832753 May 04, 2012 (137)
rs113646356 Sep 17, 2011 (135)
rs116171018 May 04, 2012 (137)
rs117687179 Aug 16, 2010 (132)
rs386576970 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
18206168, ss3911028774 NC_000006.11:31460055:T:A NC_000006.12:31492278:T:A (self)
ss77574848, ss80109862 NC_000006.9:31568034:T:C NC_000006.12:31492278:T:C (self)
ss93436289, ss114143388, ss116394096, ss160597653, ss162197316, ss163346978, ss201624700, ss254186135, ss278726507, ss285373932, ss293825669 NC_000006.10:31568034:T:C NC_000006.12:31492278:T:C (self)
31323884, 17465908, 7764231, 18206168, 8059762, 16271051, 34804450, 17465908, ss222303729, ss233398749, ss240469492, ss481605017, ss537147461, ss559113732, ss653034866, ss778702396, ss834161389, ss982765391, ss1073505376, ss1319556543, ss1615276529, ss1658270562, ss1804357829, ss1926017832, ss1970357262, ss2626308243, ss2634429649, ss2707402018, ss2711069444, ss2985361785, ss2998795068, ss3629503072, ss3632348263, ss3636778016, ss3764821851, ss3785425398, ss3790784840, ss3795662357, ss3838394434, ss3864254071, ss3911028774, ss5176835143, ss5315142095, ss5364720467, ss5508427943, ss5640088730, ss5842026210, ss5968590540 NC_000006.11:31460055:T:C NC_000006.12:31492278:T:C (self)
41116985, 221206058, 48526538, 535754511, 12930597686, ss3648309817, ss3807977243, ss3843836609, ss4698376953, ss5267935319, ss5553591050, ss5714689434, ss5807306975, ss5883242508 NC_000006.12:31492278:T:C NC_000006.12:31492278:T:C (self)
ss14275389, ss22412735 NT_007592.13:22314673:C:C NC_000006.12:31492278:T:C (self)
ss4099277, ss5248473, ss12691116, ss42868985, ss105991038, ss139663019, ss156745558 NT_007592.15:31400055:T:C NC_000006.12:31492278:T:C (self)
ss4025188422 NT_113891.3:2969619:C:C NC_000006.12:31492278:T:C (self)
ss4025247845 NT_167247.2:2834233:C:C NC_000006.12:31492278:T:C (self)
ss4025287422 NT_167249.2:2791555:C:C NC_000006.12:31492278:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs2904592

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.

Software version is: 2.0.1.post761+d5e8e07