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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.

rs2173115

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:20244495 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.401047 (106153/264690, TOPMED)
G=0.391589 (54770/139866, GnomAD)
G=0.41261 (30518/73964, ALFA) (+ 19 more)
T=0.48574 (13726/28258, 14KJPN)
T=0.48437 (8118/16760, 8.3KJPN)
G=0.4180 (2677/6404, 1000G_30x)
G=0.4267 (2137/5008, 1000G)
G=0.4259 (1908/4480, Estonian)
G=0.4328 (1668/3854, ALSPAC)
G=0.4396 (1630/3708, TWINSUK)
G=0.4843 (1419/2930, KOREAN)
G=0.4289 (893/2082, HGDP_Stanford)
G=0.3984 (753/1890, HapMap)
G=0.4547 (512/1126, Daghestan)
G=0.437 (436/998, GoNL)
G=0.463 (278/600, NorthernSweden)
T=0.322 (121/376, SGDP_PRJ)
G=0.431 (93/216, Qatari)
G=0.416 (89/214, Vietnamese)
G=0.47 (42/90, Ancient Sardinia)
G=0.45 (18/40, GENOME_DK)
T=0.36 (13/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 73964 T=0.58739 A=0.00000, G=0.41261
European Sub 57286 T=0.57464 A=0.00000, G=0.42536
African Sub 6452 T=0.7965 A=0.0000, G=0.2035
African Others Sub 224 T=0.839 A=0.000, G=0.161
African American Sub 6228 T=0.7950 A=0.0000, G=0.2050
Asian Sub 158 T=0.582 A=0.000, G=0.418
East Asian Sub 100 T=0.58 A=0.00, G=0.42
Other Asian Sub 58 T=0.59 A=0.00, G=0.41
Latin American 1 Sub 306 T=0.614 A=0.000, G=0.386
Latin American 2 Sub 2936 T=0.5249 A=0.0000, G=0.4751
South Asian Sub 4910 T=0.5051 A=0.0000, G=0.4949
Other Sub 1916 T=0.5673 A=0.0000, G=0.4327


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=0.598953 G=0.401047
gnomAD - Genomes Global Study-wide 139866 T=0.608411 G=0.391589
gnomAD - Genomes European Sub 75796 T=0.56314 G=0.43686
gnomAD - Genomes African Sub 41868 T=0.73283 G=0.26717
gnomAD - Genomes American Sub 13622 T=0.52129 G=0.47871
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.5458 G=0.4542
gnomAD - Genomes East Asian Sub 3114 T=0.5013 G=0.4987
gnomAD - Genomes Other Sub 2148 T=0.5852 G=0.4148
Allele Frequency Aggregator Total Global 73964 T=0.58739 A=0.00000, G=0.41261
Allele Frequency Aggregator European Sub 57286 T=0.57464 A=0.00000, G=0.42536
Allele Frequency Aggregator African Sub 6452 T=0.7965 A=0.0000, G=0.2035
Allele Frequency Aggregator South Asian Sub 4910 T=0.5051 A=0.0000, G=0.4949
Allele Frequency Aggregator Latin American 2 Sub 2936 T=0.5249 A=0.0000, G=0.4751
Allele Frequency Aggregator Other Sub 1916 T=0.5673 A=0.0000, G=0.4327
Allele Frequency Aggregator Latin American 1 Sub 306 T=0.614 A=0.000, G=0.386
Allele Frequency Aggregator Asian Sub 158 T=0.582 A=0.000, G=0.418
14KJPN JAPANESE Study-wide 28258 T=0.48574 G=0.51426
8.3KJPN JAPANESE Study-wide 16760 T=0.48437 G=0.51563
1000Genomes_30x Global Study-wide 6404 T=0.5820 G=0.4180
1000Genomes_30x African Sub 1786 T=0.7402 G=0.2598
1000Genomes_30x Europe Sub 1266 T=0.5498 G=0.4502
1000Genomes_30x South Asian Sub 1202 T=0.5183 G=0.4817
1000Genomes_30x East Asian Sub 1170 T=0.5393 G=0.4607
1000Genomes_30x American Sub 980 T=0.464 G=0.536
1000Genomes Global Study-wide 5008 T=0.5733 G=0.4267
1000Genomes African Sub 1322 T=0.7300 G=0.2700
1000Genomes East Asian Sub 1008 T=0.5367 G=0.4633
1000Genomes Europe Sub 1006 T=0.5467 G=0.4533
1000Genomes South Asian Sub 978 T=0.503 G=0.497
1000Genomes American Sub 694 T=0.465 G=0.535
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5741 G=0.4259
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5672 G=0.4328
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5604 G=0.4396
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5157 G=0.4843
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 T=0.5711 G=0.4289
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 T=0.607 G=0.393
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.498 G=0.502
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.626 G=0.374
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.616 G=0.384
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.661 G=0.339
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.338 G=0.662
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.69 G=0.31
HapMap Global Study-wide 1890 T=0.6016 G=0.3984
HapMap American Sub 768 T=0.540 G=0.460
HapMap African Sub 692 T=0.714 G=0.286
HapMap Asian Sub 254 T=0.520 G=0.480
HapMap Europe Sub 176 T=0.545 G=0.455
Genome-wide autozygosity in Daghestan Global Study-wide 1126 T=0.5453 G=0.4547
Genome-wide autozygosity in Daghestan Daghestan Sub 626 T=0.542 G=0.458
Genome-wide autozygosity in Daghestan Near_East Sub 142 T=0.599 G=0.401
Genome-wide autozygosity in Daghestan Central Asia Sub 120 T=0.567 G=0.433
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.519 G=0.481
Genome-wide autozygosity in Daghestan South Asian Sub 94 T=0.54 G=0.46
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.42 G=0.58
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.563 G=0.437
Northern Sweden ACPOP Study-wide 600 T=0.537 G=0.463
SGDP_PRJ Global Study-wide 376 T=0.322 G=0.678
Qatari Global Study-wide 216 T=0.569 G=0.431
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.584 G=0.416
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 90 T=0.53 G=0.47
The Danish reference pan genome Danish Study-wide 40 T=0.55 G=0.45
Siberian Global Study-wide 36 T=0.36 G=0.64
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 8 NC_000008.11:g.20244495T>A
GRCh38.p14 chr 8 NC_000008.11:g.20244495T>G
GRCh37.p13 chr 8 NC_000008.10:g.20102006T>A
GRCh37.p13 chr 8 NC_000008.10:g.20102006T>G
LZTS1 RefSeqGene NG_015834.3:g.64487A>T
LZTS1 RefSeqGene NG_015834.3:g.64487A>C
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 G
GRCh38.p14 chr 8 NC_000008.11:g.20244495= NC_000008.11:g.20244495T>A NC_000008.11:g.20244495T>G
GRCh37.p13 chr 8 NC_000008.10:g.20102006= NC_000008.10:g.20102006T>A NC_000008.10:g.20102006T>G
LZTS1 RefSeqGene NG_015834.3:g.64487= NG_015834.3:g.64487A>T NG_015834.3:g.64487A>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#.

98 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3108022 Jun 15, 2001 (96)
2 WI_SSAHASNP ss14321177 Dec 05, 2003 (119)
3 SSAHASNP ss22656439 Apr 05, 2004 (121)
4 PERLEGEN ss24166559 Sep 20, 2004 (123)
5 ABI ss44908480 Mar 14, 2006 (126)
6 AFFY ss66306036 Dec 01, 2006 (127)
7 ILLUMINA ss66643754 Dec 01, 2006 (127)
8 ILLUMINA ss67230565 Dec 01, 2006 (127)
9 ILLUMINA ss67626039 Dec 01, 2006 (127)
10 ILLUMINA ss70708882 May 24, 2008 (130)
11 ILLUMINA ss71275947 May 17, 2007 (127)
12 ILLUMINA ss75530786 Dec 07, 2007 (129)
13 AFFY ss75981530 Dec 07, 2007 (129)
14 ILLUMINA ss79118233 Dec 15, 2007 (130)
15 KRIBB_YJKIM ss83988219 Dec 15, 2007 (130)
16 HUMANGENOME_JCVI ss98056663 Feb 05, 2009 (130)
17 BGI ss104512816 Dec 01, 2009 (131)
18 1000GENOMES ss112896166 Jan 25, 2009 (130)
19 ILLUMINA-UK ss115864690 Feb 14, 2009 (130)
20 ILLUMINA ss121937112 Dec 01, 2009 (131)
21 ILLUMINA ss153872469 Dec 01, 2009 (131)
22 ILLUMINA ss159364906 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss166353934 Jul 04, 2010 (132)
24 AFFY ss169988832 Jul 04, 2010 (132)
25 ILLUMINA ss171063993 Jul 04, 2010 (132)
26 ILLUMINA ss173157677 Jul 04, 2010 (132)
27 BUSHMAN ss198891024 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss206438628 Jul 04, 2010 (132)
29 1000GENOMES ss223587306 Jul 14, 2010 (132)
30 1000GENOMES ss234353538 Jul 15, 2010 (132)
31 1000GENOMES ss241228185 Jul 15, 2010 (132)
32 GMI ss279724993 May 04, 2012 (137)
33 GMI ss285808375 Apr 25, 2013 (138)
34 PJP ss294234765 May 09, 2011 (134)
35 ILLUMINA ss537049054 Sep 08, 2015 (146)
36 TISHKOFF ss560602074 Apr 25, 2013 (138)
37 SSMP ss655037302 Apr 25, 2013 (138)
38 ILLUMINA ss825448751 Jul 19, 2016 (147)
39 ILLUMINA ss832876769 Aug 21, 2014 (142)
40 ILLUMINA ss833467599 Aug 21, 2014 (142)
41 EVA-GONL ss985275339 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1075342354 Aug 21, 2014 (142)
43 1000GENOMES ss1328925837 Aug 21, 2014 (142)
44 HAMMER_LAB ss1397520362 Sep 08, 2015 (146)
45 DDI ss1431442343 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1582594829 Apr 01, 2015 (144)
47 EVA_DECODE ss1594865094 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1620139513 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1663133546 Apr 01, 2015 (144)
50 EVA_SVP ss1713021315 Apr 01, 2015 (144)
51 HAMMER_LAB ss1805434012 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1928565249 Feb 12, 2016 (147)
53 GENOMED ss1970930478 Jul 19, 2016 (147)
54 JJLAB ss2024982064 Sep 14, 2016 (149)
55 USC_VALOUEV ss2153203363 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2301310446 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2626975908 Nov 08, 2017 (151)
58 ILLUMINA ss2635180631 Nov 08, 2017 (151)
59 GRF ss2708964001 Nov 08, 2017 (151)
60 GNOMAD ss2864121338 Nov 08, 2017 (151)
61 SWEGEN ss3002808274 Nov 08, 2017 (151)
62 BIOINF_KMB_FNS_UNIBA ss3026281898 Nov 08, 2017 (151)
63 CSHL ss3348083150 Nov 08, 2017 (151)
64 ILLUMINA ss3630014358 Oct 12, 2018 (152)
65 ILLUMINA ss3638748534 Oct 12, 2018 (152)
66 ILLUMINA ss3639376834 Oct 12, 2018 (152)
67 ILLUMINA ss3639717235 Oct 12, 2018 (152)
68 ILLUMINA ss3643680313 Oct 12, 2018 (152)
69 URBANLAB ss3648869000 Oct 12, 2018 (152)
70 EGCUT_WGS ss3670488658 Jul 13, 2019 (153)
71 EVA_DECODE ss3721560424 Jul 13, 2019 (153)
72 ACPOP ss3735469213 Jul 13, 2019 (153)
73 EVA ss3767721097 Jul 13, 2019 (153)
74 PACBIO ss3786088033 Jul 13, 2019 (153)
75 PACBIO ss3791354373 Jul 13, 2019 (153)
76 PACBIO ss3796235543 Jul 13, 2019 (153)
77 KHV_HUMAN_GENOMES ss3810884531 Jul 13, 2019 (153)
78 EVA ss3831056329 Apr 26, 2020 (154)
79 EVA ss3839038270 Apr 26, 2020 (154)
80 EVA ss3844496301 Apr 26, 2020 (154)
81 HGDP ss3847906965 Apr 26, 2020 (154)
82 SGDP_PRJ ss3869441929 Apr 26, 2020 (154)
83 KRGDB ss3916867973 Apr 26, 2020 (154)
84 EVA ss3985347294 Apr 26, 2021 (155)
85 TOPMED ss4778181259 Apr 26, 2021 (155)
86 TOMMO_GENOMICS ss5187665180 Apr 26, 2021 (155)
87 1000G_HIGH_COVERAGE ss5276339064 Oct 14, 2022 (156)
88 EVA ss5379658938 Oct 14, 2022 (156)
89 HUGCELL_USP ss5472989234 Oct 14, 2022 (156)
90 1000G_HIGH_COVERAGE ss5566267612 Oct 14, 2022 (156)
91 SANFORD_IMAGENETICS ss5644929138 Oct 14, 2022 (156)
92 TOMMO_GENOMICS ss5729284779 Oct 14, 2022 (156)
93 YY_MCH ss5809518758 Oct 14, 2022 (156)
94 EVA ss5830227870 Oct 14, 2022 (156)
95 EVA ss5856288107 Oct 14, 2022 (156)
96 EVA ss5888032210 Oct 14, 2022 (156)
97 EVA ss5974110021 Oct 14, 2022 (156)
98 EVA ss5980492800 Oct 14, 2022 (156)
99 1000Genomes NC_000008.10 - 20102006 Oct 12, 2018 (152)
100 1000Genomes_30x NC_000008.11 - 20244495 Oct 14, 2022 (156)
101 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 20102006 Oct 12, 2018 (152)
102 Genome-wide autozygosity in Daghestan NC_000008.9 - 20146286 Apr 26, 2020 (154)
103 Genetic variation in the Estonian population NC_000008.10 - 20102006 Oct 12, 2018 (152)
104 The Danish reference pan genome NC_000008.10 - 20102006 Apr 26, 2020 (154)
105 gnomAD - Genomes NC_000008.11 - 20244495 Apr 26, 2021 (155)
106 Genome of the Netherlands Release 5 NC_000008.10 - 20102006 Apr 26, 2020 (154)
107 HGDP-CEPH-db Supplement 1 NC_000008.9 - 20146286 Apr 26, 2020 (154)
108 HapMap NC_000008.11 - 20244495 Apr 26, 2020 (154)
109 KOREAN population from KRGDB NC_000008.10 - 20102006 Apr 26, 2020 (154)
110 Northern Sweden NC_000008.10 - 20102006 Jul 13, 2019 (153)
111 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 20102006 Apr 26, 2021 (155)
112 Qatari NC_000008.10 - 20102006 Apr 26, 2020 (154)
113 SGDP_PRJ NC_000008.10 - 20102006 Apr 26, 2020 (154)
114 Siberian NC_000008.10 - 20102006 Apr 26, 2020 (154)
115 8.3KJPN NC_000008.10 - 20102006 Apr 26, 2021 (155)
116 14KJPN NC_000008.11 - 20244495 Oct 14, 2022 (156)
117 TopMed NC_000008.11 - 20244495 Apr 26, 2021 (155)
118 UK 10K study - Twins NC_000008.10 - 20102006 Oct 12, 2018 (152)
119 A Vietnamese Genetic Variation Database NC_000008.10 - 20102006 Jul 13, 2019 (153)
120 ALFA NC_000008.11 - 20244495 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)
rs58665779 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3002750903 NC_000008.11:20244494:T:A NC_000008.11:20244494:T:A (self)
494256, 584857, ss112896166, ss115864690, ss166353934, ss198891024, ss206438628, ss279724993, ss285808375, ss294234765, ss825448751, ss1397520362, ss1594865094, ss1713021315, ss2635180631, ss3639376834, ss3639717235, ss3643680313, ss3847906965 NC_000008.9:20146285:T:G NC_000008.11:20244494:T:G (self)
41020834, 22803311, 16226906, 8759767, 10189622, 24045367, 8754078, 573221, 10607179, 21458909, 5719717, 45634487, 22803311, 5084814, ss223587306, ss234353538, ss241228185, ss537049054, ss560602074, ss655037302, ss832876769, ss833467599, ss985275339, ss1075342354, ss1328925837, ss1431442343, ss1582594829, ss1620139513, ss1663133546, ss1805434012, ss1928565249, ss1970930478, ss2024982064, ss2153203363, ss2626975908, ss2708964001, ss2864121338, ss3002808274, ss3348083150, ss3630014358, ss3638748534, ss3670488658, ss3735469213, ss3767721097, ss3786088033, ss3791354373, ss3796235543, ss3831056329, ss3839038270, ss3869441929, ss3916867973, ss3985347294, ss5187665180, ss5379658938, ss5644929138, ss5830227870, ss5974110021, ss5980492800 NC_000008.10:20102005:T:G NC_000008.11:20244494:T:G (self)
53793547, 289267658, 3581530, 63121883, 615558819, 3002750903, ss2301310446, ss3026281898, ss3648869000, ss3721560424, ss3810884531, ss3844496301, ss4778181259, ss5276339064, ss5472989234, ss5566267612, ss5729284779, ss5809518758, ss5856288107, ss5888032210 NC_000008.11:20244494:T:G NC_000008.11:20244494:T:G (self)
ss14321177, ss22656439 NT_030737.8:7912926:T:G NC_000008.11:20244494:T:G (self)
ss3108022, ss24166559, ss44908480, ss66306036, ss66643754, ss67230565, ss67626039, ss70708882, ss71275947, ss75530786, ss75981530, ss79118233, ss83988219, ss98056663, ss104512816, ss121937112, ss153872469, ss159364906, ss169988832, ss171063993, ss173157677 NT_167187.1:7960151:T:G NC_000008.11:20244494:T:G (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 rs2173115

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.post774+babeb33