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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1919484

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:20012165 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.221622 (58661/264690, TOPMED)
A=0.226210 (31673/140016, GnomAD)
A=0.18290 (14394/78700, PAGE_STUDY) (+ 23 more)
A=0.23160 (8155/35212, ALFA)
A=0.19294 (5452/28258, 14KJPN)
A=0.19475 (3264/16760, 8.3KJPN)
A=0.2127 (1362/6404, 1000G_30x)
A=0.2107 (1055/5008, 1000G)
A=0.2607 (1168/4480, Estonian)
A=0.2701 (1041/3854, ALSPAC)
A=0.2619 (971/3708, TWINSUK)
A=0.2044 (599/2930, KOREAN)
A=0.2298 (479/2084, HGDP_Stanford)
A=0.1774 (335/1888, HapMap)
A=0.2014 (369/1832, Korea1K)
A=0.2686 (304/1132, Daghestan)
A=0.261 (260/998, GoNL)
A=0.238 (149/626, Chileans)
A=0.245 (147/600, NorthernSweden)
G=0.425 (96/226, SGDP_PRJ)
A=0.273 (59/216, Qatari)
A=0.193 (41/212, Vietnamese)
A=0.37 (22/60, Ancient Sardinia)
A=0.23 (9/40, GENOME_DK)
G=0.50 (11/22, Siberian)
A=0.50 (11/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
4 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 35212 G=0.76840 A=0.23160 0.59298 0.056174 0.350846 2
European Sub 22026 G=0.73604 A=0.26396 0.540089 0.068011 0.3919 0
African Sub 7852 G=0.8565 A=0.1435 0.737137 0.024198 0.238665 2
African Others Sub 244 G=0.865 A=0.135 0.745902 0.016393 0.237705 0
African American Sub 7608 G=0.8562 A=0.1438 0.736856 0.024448 0.238696 2
Asian Sub 208 G=0.760 A=0.240 0.557692 0.038462 0.403846 1
East Asian Sub 148 G=0.743 A=0.257 0.527027 0.040541 0.432432 1
Other Asian Sub 60 G=0.80 A=0.20 0.633333 0.033333 0.333333 0
Latin American 1 Sub 312 G=0.811 A=0.189 0.647436 0.025641 0.326923 0
Latin American 2 Sub 2798 G=0.7630 A=0.2370 0.588992 0.062902 0.348106 1
South Asian Sub 118 G=0.771 A=0.229 0.627119 0.084746 0.288136 1
Other Sub 1898 G=0.7813 A=0.2187 0.609062 0.046365 0.344573 0


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 G=0.778378 A=0.221622
gnomAD - Genomes Global Study-wide 140016 G=0.773790 A=0.226210
gnomAD - Genomes European Sub 75844 G=0.73331 A=0.26669
gnomAD - Genomes African Sub 41948 G=0.85334 A=0.14666
gnomAD - Genomes American Sub 13628 G=0.76710 A=0.23290
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.6987 A=0.3013
gnomAD - Genomes East Asian Sub 3128 G=0.8002 A=0.1998
gnomAD - Genomes Other Sub 2146 G=0.7698 A=0.2302
The PAGE Study Global Study-wide 78700 G=0.81710 A=0.18290
The PAGE Study AfricanAmerican Sub 32514 G=0.85071 A=0.14929
The PAGE Study Mexican Sub 10810 G=0.78002 A=0.21998
The PAGE Study Asian Sub 8318 G=0.8157 A=0.1843
The PAGE Study PuertoRican Sub 7918 G=0.7811 A=0.2189
The PAGE Study NativeHawaiian Sub 4534 G=0.8326 A=0.1674
The PAGE Study Cuban Sub 4230 G=0.7513 A=0.2487
The PAGE Study Dominican Sub 3828 G=0.8216 A=0.1784
The PAGE Study CentralAmerican Sub 2450 G=0.7984 A=0.2016
The PAGE Study SouthAmerican Sub 1982 G=0.7825 A=0.2175
The PAGE Study NativeAmerican Sub 1260 G=0.7802 A=0.2198
The PAGE Study SouthAsian Sub 856 G=0.766 A=0.234
Allele Frequency Aggregator Total Global 35212 G=0.76840 A=0.23160
Allele Frequency Aggregator European Sub 22026 G=0.73604 A=0.26396
Allele Frequency Aggregator African Sub 7852 G=0.8565 A=0.1435
Allele Frequency Aggregator Latin American 2 Sub 2798 G=0.7630 A=0.2370
Allele Frequency Aggregator Other Sub 1898 G=0.7813 A=0.2187
Allele Frequency Aggregator Latin American 1 Sub 312 G=0.811 A=0.189
Allele Frequency Aggregator Asian Sub 208 G=0.760 A=0.240
Allele Frequency Aggregator South Asian Sub 118 G=0.771 A=0.229
14KJPN JAPANESE Study-wide 28258 G=0.80706 A=0.19294
8.3KJPN JAPANESE Study-wide 16760 G=0.80525 A=0.19475
1000Genomes_30x Global Study-wide 6404 G=0.7873 A=0.2127
1000Genomes_30x African Sub 1786 G=0.8723 A=0.1277
1000Genomes_30x Europe Sub 1266 G=0.7014 A=0.2986
1000Genomes_30x South Asian Sub 1202 G=0.7903 A=0.2097
1000Genomes_30x East Asian Sub 1170 G=0.7667 A=0.2333
1000Genomes_30x American Sub 980 G=0.764 A=0.236
1000Genomes Global Study-wide 5008 G=0.7893 A=0.2107
1000Genomes African Sub 1322 G=0.8729 A=0.1271
1000Genomes East Asian Sub 1008 G=0.7688 A=0.2312
1000Genomes Europe Sub 1006 G=0.7177 A=0.2823
1000Genomes South Asian Sub 978 G=0.787 A=0.213
1000Genomes American Sub 694 G=0.767 A=0.233
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7393 A=0.2607
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7299 A=0.2701
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7381 A=0.2619
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7956 A=0.2044
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.7702 A=0.2298
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.760 A=0.240
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.766 A=0.234
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.749 A=0.251
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.653 A=0.347
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.930 A=0.070
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.880 A=0.120
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.62 A=0.38
HapMap Global Study-wide 1888 G=0.8226 A=0.1774
HapMap American Sub 766 G=0.789 A=0.211
HapMap African Sub 692 G=0.897 A=0.103
HapMap Asian Sub 254 G=0.791 A=0.209
HapMap Europe Sub 176 G=0.722 A=0.278
Korean Genome Project KOREAN Study-wide 1832 G=0.7986 A=0.2014
Genome-wide autozygosity in Daghestan Global Study-wide 1132 G=0.7314 A=0.2686
Genome-wide autozygosity in Daghestan Daghestan Sub 624 G=0.724 A=0.276
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.722 A=0.278
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.795 A=0.205
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.704 A=0.296
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.72 A=0.28
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.78 A=0.22
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.739 A=0.261
Chileans Chilean Study-wide 626 G=0.762 A=0.238
Northern Sweden ACPOP Study-wide 600 G=0.755 A=0.245
SGDP_PRJ Global Study-wide 226 G=0.425 A=0.575
Qatari Global Study-wide 216 G=0.727 A=0.273
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.807 A=0.193
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 G=0.63 A=0.37
The Danish reference pan genome Danish Study-wide 40 G=0.78 A=0.23
Siberian Global Study-wide 22 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 8 NC_000008.11:g.20012165G>A
GRCh37.p13 chr 8 NC_000008.10:g.19869676G>A
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
GRCh38.p14 chr 8 NC_000008.11:g.20012165= NC_000008.11:g.20012165G>A
GRCh37.p13 chr 8 NC_000008.10:g.19869676= NC_000008.10:g.19869676G>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#.

85 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2805422 Jan 12, 2001 (92)
2 BCM_SSAHASNP ss10487965 Jul 11, 2003 (116)
3 PERLEGEN ss24649077 Sep 20, 2004 (123)
4 ABI ss44851686 Mar 14, 2006 (126)
5 ILLUMINA ss65722440 Oct 15, 2006 (127)
6 AFFY ss66095964 Nov 30, 2006 (127)
7 ILLUMINA ss67599112 Nov 30, 2006 (127)
8 ILLUMINA ss71248975 May 17, 2007 (127)
9 ILLUMINA ss75423720 Dec 06, 2007 (129)
10 AFFY ss76056345 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss81626130 Dec 15, 2007 (130)
12 BGI ss104512631 Dec 01, 2009 (131)
13 AFFY ss172345539 Jul 04, 2010 (132)
14 ILLUMINA ss172986150 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss208653442 Jul 04, 2010 (132)
16 1000GENOMES ss223586017 Jul 14, 2010 (132)
17 1000GENOMES ss234352739 Jul 15, 2010 (132)
18 1000GENOMES ss241227506 Jul 15, 2010 (132)
19 ILLUMINA ss244285712 Jul 04, 2010 (132)
20 BL ss254172120 May 09, 2011 (134)
21 GMI ss279724240 May 04, 2012 (137)
22 ILLUMINA ss410878862 Sep 17, 2011 (135)
23 ILLUMINA ss537008331 Sep 08, 2015 (146)
24 SSMP ss655035904 Apr 25, 2013 (138)
25 EVA-GONL ss985273184 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1075340511 Aug 21, 2014 (142)
27 1000GENOMES ss1328917088 Aug 21, 2014 (142)
28 HAMMER_LAB ss1397520261 Sep 08, 2015 (146)
29 DDI ss1431441720 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1582594004 Apr 01, 2015 (144)
31 EVA_DECODE ss1594862845 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1620134852 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1663128885 Apr 01, 2015 (144)
34 EVA_SVP ss1713021160 Apr 01, 2015 (144)
35 WEILL_CORNELL_DGM ss1928562943 Feb 12, 2016 (147)
36 ILLUMINA ss1959094067 Feb 12, 2016 (147)
37 GENOMED ss1970930046 Jul 19, 2016 (147)
38 JJLAB ss2024980879 Sep 14, 2016 (149)
39 USC_VALOUEV ss2153202304 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2301292090 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2626975299 Nov 08, 2017 (151)
42 ILLUMINA ss2635180608 Nov 08, 2017 (151)
43 GRF ss2708962802 Nov 08, 2017 (151)
44 GNOMAD ss2864098025 Nov 08, 2017 (151)
45 SWEGEN ss3002805172 Nov 08, 2017 (151)
46 ILLUMINA ss3022826266 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3026281296 Nov 08, 2017 (151)
48 CSHL ss3348082276 Nov 08, 2017 (151)
49 ILLUMINA ss3630013795 Oct 12, 2018 (152)
50 ILLUMINA ss3638748416 Oct 12, 2018 (152)
51 ILLUMINA ss3643680206 Oct 12, 2018 (152)
52 ILLUMINA ss3653367232 Oct 12, 2018 (152)
53 EGCUT_WGS ss3670485270 Jul 13, 2019 (153)
54 EVA_DECODE ss3721556377 Jul 13, 2019 (153)
55 ILLUMINA ss3726520522 Jul 13, 2019 (153)
56 ACPOP ss3735467517 Jul 13, 2019 (153)
57 EVA ss3767718362 Jul 13, 2019 (153)
58 PAGE_CC ss3771428826 Jul 13, 2019 (153)
59 PACBIO ss3786087552 Jul 13, 2019 (153)
60 PACBIO ss3791353952 Jul 13, 2019 (153)
61 PACBIO ss3796235122 Jul 13, 2019 (153)
62 KHV_HUMAN_GENOMES ss3810881891 Jul 13, 2019 (153)
63 EVA ss3831055222 Apr 26, 2020 (154)
64 EVA ss3839037739 Apr 26, 2020 (154)
65 EVA ss3844495764 Apr 26, 2020 (154)
66 HGDP ss3847906889 Apr 26, 2020 (154)
67 SGDP_PRJ ss3869437674 Apr 26, 2020 (154)
68 KRGDB ss3916863509 Apr 26, 2020 (154)
69 KOGIC ss3963403026 Apr 26, 2020 (154)
70 EVA ss3985347166 Apr 27, 2021 (155)
71 EVA ss4017379983 Apr 27, 2021 (155)
72 TOPMED ss4778109066 Apr 27, 2021 (155)
73 TOMMO_GENOMICS ss5187656359 Apr 27, 2021 (155)
74 1000G_HIGH_COVERAGE ss5276331804 Oct 14, 2022 (156)
75 EVA ss5379645242 Oct 14, 2022 (156)
76 HUGCELL_USP ss5472982372 Oct 14, 2022 (156)
77 1000G_HIGH_COVERAGE ss5566256501 Oct 14, 2022 (156)
78 SANFORD_IMAGENETICS ss5624688048 Oct 14, 2022 (156)
79 SANFORD_IMAGENETICS ss5644924841 Oct 14, 2022 (156)
80 TOMMO_GENOMICS ss5729273475 Oct 14, 2022 (156)
81 YY_MCH ss5809517135 Oct 14, 2022 (156)
82 EVA ss5830225132 Oct 14, 2022 (156)
83 EVA ss5856287333 Oct 14, 2022 (156)
84 EVA ss5888023460 Oct 14, 2022 (156)
85 EVA ss5974105401 Oct 14, 2022 (156)
86 1000Genomes NC_000008.10 - 19869676 Oct 12, 2018 (152)
87 1000Genomes_30x NC_000008.11 - 20012165 Oct 14, 2022 (156)
88 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19869676 Oct 12, 2018 (152)
89 Chileans NC_000008.10 - 19869676 Apr 26, 2020 (154)
90 Genome-wide autozygosity in Daghestan NC_000008.9 - 19913956 Apr 26, 2020 (154)
91 Genetic variation in the Estonian population NC_000008.10 - 19869676 Oct 12, 2018 (152)
92 The Danish reference pan genome NC_000008.10 - 19869676 Apr 26, 2020 (154)
93 gnomAD - Genomes NC_000008.11 - 20012165 Apr 27, 2021 (155)
94 Genome of the Netherlands Release 5 NC_000008.10 - 19869676 Apr 26, 2020 (154)
95 HGDP-CEPH-db Supplement 1 NC_000008.9 - 19913956 Apr 26, 2020 (154)
96 HapMap NC_000008.11 - 20012165 Apr 26, 2020 (154)
97 KOREAN population from KRGDB NC_000008.10 - 19869676 Apr 26, 2020 (154)
98 Korean Genome Project NC_000008.11 - 20012165 Apr 26, 2020 (154)
99 Northern Sweden NC_000008.10 - 19869676 Jul 13, 2019 (153)
100 The PAGE Study NC_000008.11 - 20012165 Jul 13, 2019 (153)
101 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 19869676 Apr 27, 2021 (155)
102 Qatari NC_000008.10 - 19869676 Apr 26, 2020 (154)
103 SGDP_PRJ NC_000008.10 - 19869676 Apr 26, 2020 (154)
104 Siberian NC_000008.10 - 19869676 Apr 26, 2020 (154)
105 8.3KJPN NC_000008.10 - 19869676 Apr 27, 2021 (155)
106 14KJPN NC_000008.11 - 20012165 Oct 14, 2022 (156)
107 TopMed NC_000008.11 - 20012165 Apr 27, 2021 (155)
108 UK 10K study - Twins NC_000008.10 - 19869676 Oct 12, 2018 (152)
109 A Vietnamese Genetic Variation Database NC_000008.10 - 19869676 Jul 13, 2019 (153)
110 ALFA NC_000008.11 - 20012165 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)
rs17411266 Oct 08, 2004 (123)
rs60572828 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
494155, 584781, ss208653442, ss254172120, ss279724240, ss1397520261, ss1594862845, ss1713021160, ss2635180608, ss3643680206, ss3847906889 NC_000008.9:19913955:G:A NC_000008.11:20012164:G:A (self)
41011885, 22798325, 429670, 16223518, 8758942, 10187497, 24040903, 8752382, 573093, 10604873, 21454654, 5718658, 45625666, 22798325, 5083745, ss223586017, ss234352739, ss241227506, ss537008331, ss655035904, ss985273184, ss1075340511, ss1328917088, ss1431441720, ss1582594004, ss1620134852, ss1663128885, ss1928562943, ss1959094067, ss1970930046, ss2024980879, ss2153202304, ss2626975299, ss2708962802, ss2864098025, ss3002805172, ss3022826266, ss3348082276, ss3630013795, ss3638748416, ss3653367232, ss3670485270, ss3735467517, ss3767718362, ss3786087552, ss3791353952, ss3796235122, ss3831055222, ss3839037739, ss3869437674, ss3916863509, ss3985347166, ss4017379983, ss5187656359, ss5379645242, ss5624688048, ss5644924841, ss5830225132, ss5974105401 NC_000008.10:19869675:G:A NC_000008.11:20012164:G:A (self)
53782436, 289208018, 3581149, 19781027, 650295, 63110579, 615486626, 5411429084, ss2301292090, ss3026281296, ss3721556377, ss3726520522, ss3771428826, ss3810881891, ss3844495764, ss3963403026, ss4778109066, ss5276331804, ss5472982372, ss5566256501, ss5729273475, ss5809517135, ss5856287333, ss5888023460 NC_000008.11:20012164:G:A NC_000008.11:20012164:G:A (self)
ss10487965 NT_030737.7:3590899:G:A NC_000008.11:20012164:G:A (self)
ss2805422, ss24649077, ss44851686, ss65722440, ss66095964, ss67599112, ss71248975, ss75423720, ss76056345, ss81626130, ss104512631, ss172345539, ss172986150, ss244285712, ss410878862 NT_167187.1:7727821:G:A NC_000008.11:20012164:G:A (self)
Help

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

4 citations for rs1919484
PMID Title Author Year Journal
20018038 Evaluation of genetic risk scores for lipid levels using genome-wide markers in the Framingham Heart Study. Piccolo SR et al. 2009 BMC proceedings
20370913 Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. Ma L et al. 2010 BMC medical genetics
23284720 Using family-based imputation in genome-wide association studies with large complex pedigrees: the Framingham Heart Study. Chen MH et al. 2012 PloS one
25005712 Genetic loci associated with changes in lipid levels leading to constitution-based discrepancy in Koreans. Chung SK et al. 2014 BMC complementary and alternative medicine
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.post820+afb47a3d