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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.

rs2876830

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:50545203 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.07152 (2021/28258, 14KJPN)
A=0.05053 (866/17138, ALFA)
A=0.07125 (1194/16758, 8.3KJPN) (+ 16 more)
A=0.0834 (534/6404, 1000G_30x)
A=0.0895 (448/5008, 1000G)
A=0.1368 (613/4480, Estonian)
A=0.1098 (423/3854, ALSPAC)
A=0.0974 (361/3708, TWINSUK)
A=0.1089 (319/2930, KOREAN)
A=0.1037 (190/1832, Korea1K)
A=0.124 (124/998, GoNL)
A=0.168 (101/600, NorthernSweden)
A=0.024 (8/328, HapMap)
A=0.051 (11/216, Qatari)
A=0.043 (9/208, Vietnamese)
G=0.43 (37/86, SGDP_PRJ)
A=0.20 (8/40, GENOME_DK)
G=0.50 (7/14, Siberian)
A=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DDC : 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 17138 G=0.94947 A=0.05053, C=0.00000, T=0.00000
European Sub 12916 G=0.93520 A=0.06480, C=0.00000, T=0.00000
African Sub 2828 G=0.9989 A=0.0011, C=0.0000, T=0.0000
African Others Sub 114 G=1.000 A=0.000, C=0.000, T=0.000
African American Sub 2714 G=0.9989 A=0.0011, C=0.0000, T=0.0000
Asian Sub 106 G=0.991 A=0.009, C=0.000, T=0.000
East Asian Sub 80 G=0.99 A=0.01, C=0.00, T=0.00
Other Asian Sub 26 G=1.00 A=0.00, C=0.00, T=0.00
Latin American 1 Sub 128 G=1.000 A=0.000, C=0.000, T=0.000
Latin American 2 Sub 466 G=1.000 A=0.000, C=0.000, T=0.000
South Asian Sub 72 G=1.00 A=0.00, C=0.00, T=0.00
Other Sub 622 G=0.960 A=0.040, C=0.000, T=0.000


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
14KJPN JAPANESE Study-wide 28258 G=0.92848 A=0.07152
Allele Frequency Aggregator Total Global 17138 G=0.94947 A=0.05053, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 12916 G=0.93520 A=0.06480, C=0.00000, T=0.00000
Allele Frequency Aggregator African Sub 2828 G=0.9989 A=0.0011, C=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 622 G=0.960 A=0.040, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 466 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 128 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 106 G=0.991 A=0.009, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 72 G=1.00 A=0.00, C=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16758 G=0.92875 A=0.07125
1000Genomes_30x Global Study-wide 6404 G=0.9166 A=0.0834
1000Genomes_30x African Sub 1786 G=0.9950 A=0.0050
1000Genomes_30x Europe Sub 1266 G=0.8863 A=0.1137
1000Genomes_30x South Asian Sub 1202 G=0.8669 A=0.1331
1000Genomes_30x East Asian Sub 1170 G=0.9368 A=0.0632
1000Genomes_30x American Sub 980 G=0.850 A=0.150
1000Genomes Global Study-wide 5008 G=0.9105 A=0.0895
1000Genomes African Sub 1322 G=0.9939 A=0.0061
1000Genomes East Asian Sub 1008 G=0.9345 A=0.0655
1000Genomes Europe Sub 1006 G=0.8797 A=0.1203
1000Genomes South Asian Sub 978 G=0.851 A=0.149
1000Genomes American Sub 694 G=0.846 A=0.154
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8632 A=0.1368
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8902 A=0.1098
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9026 A=0.0974
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8911 A=0.1089
Korean Genome Project KOREAN Study-wide 1832 G=0.8963 A=0.1037
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.876 A=0.124
Northern Sweden ACPOP Study-wide 600 G=0.832 A=0.168
HapMap Global Study-wide 328 G=0.976 A=0.024
HapMap African Sub 120 G=1.000 A=0.000
HapMap American Sub 118 G=0.941 A=0.059
HapMap Asian Sub 90 G=0.99 A=0.01
Qatari Global Study-wide 216 G=0.949 A=0.051
A Vietnamese Genetic Variation Database Global Study-wide 208 G=0.957 A=0.043
SGDP_PRJ Global Study-wide 86 G=0.43 A=0.57
The Danish reference pan genome Danish Study-wide 40 G=0.80 A=0.20
Siberian Global Study-wide 14 G=0.50 A=0.50
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 7 NC_000007.14:g.50545203G>A
GRCh38.p14 chr 7 NC_000007.14:g.50545203G>C
GRCh38.p14 chr 7 NC_000007.14:g.50545203G>T
GRCh37.p13 chr 7 NC_000007.13:g.50612901G>A
GRCh37.p13 chr 7 NC_000007.13:g.50612901G>C
GRCh37.p13 chr 7 NC_000007.13:g.50612901G>T
DDC RefSeqGene NG_008742.1:g.25254C>T
DDC RefSeqGene NG_008742.1:g.25254C>G
DDC RefSeqGene NG_008742.1:g.25254C>A
Gene: DDC, dopa decarboxylase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DDC transcript variant 2 NM_000790.4:c.-28-1090C>T N/A Intron Variant
DDC transcript variant 1 NM_001082971.2:c.-28-1090…

NM_001082971.2:c.-28-1090C>T

N/A Intron Variant
DDC transcript variant 3 NM_001242886.2:c.-28-1090…

NM_001242886.2:c.-28-1090C>T

N/A Intron Variant
DDC transcript variant 4 NM_001242887.2:c.-28-1090…

NM_001242887.2:c.-28-1090C>T

N/A Intron Variant
DDC transcript variant 5 NM_001242888.2:c.-28-1090…

NM_001242888.2:c.-28-1090C>T

N/A Intron Variant
DDC transcript variant 6 NM_001242889.2:c.-28-1090…

NM_001242889.2:c.-28-1090C>T

N/A Intron Variant
DDC transcript variant 7 NM_001242890.2:c.-28-1090…

NM_001242890.2:c.-28-1090C>T

N/A Intron Variant
DDC transcript variant X2 XM_005271745.5:c.-28-1090…

XM_005271745.5:c.-28-1090C>T

N/A Intron Variant
DDC transcript variant X1 XM_047419931.1:c.-28-1090…

XM_047419931.1:c.-28-1090C>T

N/A Intron Variant
DDC transcript variant X3 XM_047419932.1:c.-28-1090…

XM_047419932.1:c.-28-1090C>T

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 G= A C T
GRCh38.p14 chr 7 NC_000007.14:g.50545203= NC_000007.14:g.50545203G>A NC_000007.14:g.50545203G>C NC_000007.14:g.50545203G>T
GRCh37.p13 chr 7 NC_000007.13:g.50612901= NC_000007.13:g.50612901G>A NC_000007.13:g.50612901G>C NC_000007.13:g.50612901G>T
DDC RefSeqGene NG_008742.1:g.25254= NG_008742.1:g.25254C>T NG_008742.1:g.25254C>G NG_008742.1:g.25254C>A
DDC transcript variant 2 NM_000790.3:c.-28-1090= NM_000790.3:c.-28-1090C>T NM_000790.3:c.-28-1090C>G NM_000790.3:c.-28-1090C>A
DDC transcript variant 2 NM_000790.4:c.-28-1090= NM_000790.4:c.-28-1090C>T NM_000790.4:c.-28-1090C>G NM_000790.4:c.-28-1090C>A
DDC transcript variant 1 NM_001082971.1:c.-28-1090= NM_001082971.1:c.-28-1090C>T NM_001082971.1:c.-28-1090C>G NM_001082971.1:c.-28-1090C>A
DDC transcript variant 1 NM_001082971.2:c.-28-1090= NM_001082971.2:c.-28-1090C>T NM_001082971.2:c.-28-1090C>G NM_001082971.2:c.-28-1090C>A
DDC transcript variant 3 NM_001242886.1:c.-28-1090= NM_001242886.1:c.-28-1090C>T NM_001242886.1:c.-28-1090C>G NM_001242886.1:c.-28-1090C>A
DDC transcript variant 3 NM_001242886.2:c.-28-1090= NM_001242886.2:c.-28-1090C>T NM_001242886.2:c.-28-1090C>G NM_001242886.2:c.-28-1090C>A
DDC transcript variant 4 NM_001242887.1:c.-28-1090= NM_001242887.1:c.-28-1090C>T NM_001242887.1:c.-28-1090C>G NM_001242887.1:c.-28-1090C>A
DDC transcript variant 4 NM_001242887.2:c.-28-1090= NM_001242887.2:c.-28-1090C>T NM_001242887.2:c.-28-1090C>G NM_001242887.2:c.-28-1090C>A
DDC transcript variant 5 NM_001242888.1:c.-28-1090= NM_001242888.1:c.-28-1090C>T NM_001242888.1:c.-28-1090C>G NM_001242888.1:c.-28-1090C>A
DDC transcript variant 5 NM_001242888.2:c.-28-1090= NM_001242888.2:c.-28-1090C>T NM_001242888.2:c.-28-1090C>G NM_001242888.2:c.-28-1090C>A
DDC transcript variant 6 NM_001242889.1:c.-28-1090= NM_001242889.1:c.-28-1090C>T NM_001242889.1:c.-28-1090C>G NM_001242889.1:c.-28-1090C>A
DDC transcript variant 6 NM_001242889.2:c.-28-1090= NM_001242889.2:c.-28-1090C>T NM_001242889.2:c.-28-1090C>G NM_001242889.2:c.-28-1090C>A
DDC transcript variant 7 NM_001242890.1:c.-28-1090= NM_001242890.1:c.-28-1090C>T NM_001242890.1:c.-28-1090C>G NM_001242890.1:c.-28-1090C>A
DDC transcript variant 7 NM_001242890.2:c.-28-1090= NM_001242890.2:c.-28-1090C>T NM_001242890.2:c.-28-1090C>G NM_001242890.2:c.-28-1090C>A
DDC transcript variant X1 XM_005271744.1:c.-28-1090= XM_005271744.1:c.-28-1090C>T XM_005271744.1:c.-28-1090C>G XM_005271744.1:c.-28-1090C>A
DDC transcript variant X2 XM_005271745.1:c.-28-1090= XM_005271745.1:c.-28-1090C>T XM_005271745.1:c.-28-1090C>G XM_005271745.1:c.-28-1090C>A
DDC transcript variant X2 XM_005271745.5:c.-28-1090= XM_005271745.5:c.-28-1090C>T XM_005271745.5:c.-28-1090C>G XM_005271745.5:c.-28-1090C>A
DDC transcript variant X1 XM_047419931.1:c.-28-1090= XM_047419931.1:c.-28-1090C>T XM_047419931.1:c.-28-1090C>G XM_047419931.1:c.-28-1090C>A
DDC transcript variant X3 XM_047419932.1:c.-28-1090= XM_047419932.1:c.-28-1090C>T XM_047419932.1:c.-28-1090C>G XM_047419932.1:c.-28-1090C>A
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#.

50 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss4067550 Nov 05, 2001 (101)
2 EGP_SNPS ss16361276 Feb 28, 2004 (121)
3 1000GENOMES ss111980968 Jan 25, 2009 (130)
4 1000GENOMES ss233971350 Jul 15, 2010 (132)
5 1000GENOMES ss240926127 Jul 15, 2010 (132)
6 GMI ss279301492 May 04, 2012 (137)
7 SSMP ss654356043 Apr 25, 2013 (138)
8 EVA-GONL ss984261308 Aug 21, 2014 (142)
9 JMKIDD_LAB ss1074597867 Aug 21, 2014 (142)
10 1000GENOMES ss1325072284 Aug 21, 2014 (142)
11 DDI ss1431118466 Apr 01, 2015 (144)
12 EVA_GENOME_DK ss1582195960 Apr 01, 2015 (144)
13 EVA_DECODE ss1593839386 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1618183733 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1661177766 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1927505300 Feb 12, 2016 (147)
17 GENOMED ss1970697899 Jul 19, 2016 (147)
18 JJLAB ss2024436832 Sep 14, 2016 (149)
19 ILLUMINA ss2094976549 Dec 20, 2016 (150)
20 ILLUMINA ss2095199423 Dec 20, 2016 (150)
21 USC_VALOUEV ss2152632888 Dec 20, 2016 (150)
22 HUMAN_LONGEVITY ss2293927839 Dec 20, 2016 (150)
23 GRF ss2708297383 Nov 08, 2017 (151)
24 GNOMAD ss2852981891 Nov 08, 2017 (151)
25 SWEGEN ss3001093336 Nov 08, 2017 (151)
26 BIOINF_KMB_FNS_UNIBA ss3026014115 Nov 08, 2017 (151)
27 CSHL ss3347577752 Nov 08, 2017 (151)
28 ILLUMINA ss3653266624 Oct 12, 2018 (152)
29 EGCUT_WGS ss3669016416 Jul 13, 2019 (153)
30 EVA_DECODE ss3719665952 Jul 13, 2019 (153)
31 ACPOP ss3734617952 Jul 13, 2019 (153)
32 EVA ss3766546317 Jul 13, 2019 (153)
33 KHV_HUMAN_GENOMES ss3809705826 Jul 13, 2019 (153)
34 EVA ss3830565228 Apr 26, 2020 (154)
35 SGDP_PRJ ss3867237257 Apr 26, 2020 (154)
36 KRGDB ss3914315167 Apr 26, 2020 (154)
37 KOGIC ss3961440107 Apr 26, 2020 (154)
38 TOPMED ss4745501280 Apr 27, 2021 (155)
39 TOPMED ss4745501281 Apr 27, 2021 (155)
40 TOMMO_GENOMICS ss5183087031 Apr 27, 2021 (155)
41 1000G_HIGH_COVERAGE ss5272825894 Oct 17, 2022 (156)
42 EVA ss5373470590 Oct 17, 2022 (156)
43 HUGCELL_USP ss5470004075 Oct 17, 2022 (156)
44 1000G_HIGH_COVERAGE ss5560969879 Oct 17, 2022 (156)
45 SANFORD_IMAGENETICS ss5642919494 Oct 17, 2022 (156)
46 TOMMO_GENOMICS ss5722904982 Oct 17, 2022 (156)
47 YY_MCH ss5808588473 Oct 17, 2022 (156)
48 EVA ss5822803044 Oct 17, 2022 (156)
49 EVA ss5858851657 Oct 17, 2022 (156)
50 EVA ss5972137280 Oct 17, 2022 (156)
51 1000Genomes NC_000007.13 - 50612901 Oct 12, 2018 (152)
52 1000Genomes_30x NC_000007.14 - 50545203 Oct 17, 2022 (156)
53 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 50612901 Oct 12, 2018 (152)
54 Genetic variation in the Estonian population NC_000007.13 - 50612901 Oct 12, 2018 (152)
55 The Danish reference pan genome NC_000007.13 - 50612901 Apr 26, 2020 (154)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 261082931 (NC_000007.14:50545202:G:A 12223/140196)
Row 261082932 (NC_000007.14:50545202:G:T 5/140218)

- Apr 27, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 261082931 (NC_000007.14:50545202:G:A 12223/140196)
Row 261082932 (NC_000007.14:50545202:G:T 5/140218)

- Apr 27, 2021 (155)
58 Genome of the Netherlands Release 5 NC_000007.13 - 50612901 Apr 26, 2020 (154)
59 HapMap NC_000007.14 - 50545203 Apr 26, 2020 (154)
60 KOREAN population from KRGDB NC_000007.13 - 50612901 Apr 26, 2020 (154)
61 Korean Genome Project NC_000007.14 - 50545203 Apr 26, 2020 (154)
62 Northern Sweden NC_000007.13 - 50612901 Jul 13, 2019 (153)
63 Qatari NC_000007.13 - 50612901 Apr 26, 2020 (154)
64 SGDP_PRJ NC_000007.13 - 50612901 Apr 26, 2020 (154)
65 Siberian NC_000007.13 - 50612901 Apr 26, 2020 (154)
66 8.3KJPN NC_000007.13 - 50612901 Apr 27, 2021 (155)
67 14KJPN NC_000007.14 - 50545203 Oct 17, 2022 (156)
68 TopMed

Submission ignored due to conflicting rows:
Row 582878839 (NC_000007.14:50545202:G:A 20010/264690)
Row 582878840 (NC_000007.14:50545202:G:C 2/264690)

- Apr 27, 2021 (155)
69 TopMed

Submission ignored due to conflicting rows:
Row 582878839 (NC_000007.14:50545202:G:A 20010/264690)
Row 582878840 (NC_000007.14:50545202:G:C 2/264690)

- Apr 27, 2021 (155)
70 UK 10K study - Twins NC_000007.13 - 50612901 Oct 12, 2018 (152)
71 A Vietnamese Genetic Variation Database NC_000007.13 - 50612901 Jul 13, 2019 (153)
72 ALFA NC_000007.14 - 50545203 Apr 27, 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)
rs11575279 Apr 05, 2004 (121)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss111980968, ss279301492, ss1593839386, ss2094976549 NC_000007.12:50580394:G:A NC_000007.14:50545202:G:A (self)
37039664, 20657979, 14754664, 8360899, 9212025, 21492561, 7902817, 9547230, 19254237, 5149242, 41056338, 20657979, 4603908, ss233971350, ss240926127, ss654356043, ss984261308, ss1074597867, ss1325072284, ss1431118466, ss1582195960, ss1618183733, ss1661177766, ss1927505300, ss1970697899, ss2024436832, ss2095199423, ss2152632888, ss2708297383, ss2852981891, ss3001093336, ss3347577752, ss3653266624, ss3669016416, ss3734617952, ss3766546317, ss3830565228, ss3867237257, ss3914315167, ss5183087031, ss5373470590, ss5642919494, ss5822803044, ss5972137280 NC_000007.13:50612900:G:A NC_000007.14:50545202:G:A (self)
48495814, 3399001, 17818108, 56742086, 948378968, ss2293927839, ss3026014115, ss3719665952, ss3809705826, ss3961440107, ss4745501280, ss5272825894, ss5470004075, ss5560969879, ss5722904982, ss5808588473, ss5858851657 NC_000007.14:50545202:G:A NC_000007.14:50545202:G:A (self)
ss4067550, ss16361276 NT_033968.6:202269:G:A NC_000007.14:50545202:G:A (self)
948378968, ss4745501281 NC_000007.14:50545202:G:C NC_000007.14:50545202:G:C (self)
948378968 NC_000007.14:50545202:G:T NC_000007.14:50545202:G:T (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 rs2876830

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