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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.

rs2250246

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:6443850 (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>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.424315 (112312/264690, TOPMED)
A=0.415220 (84112/202572, ALFA)
A=0.418318 (58572/140018, GnomAD) (+ 19 more)
A=0.47367 (13385/28258, 14KJPN)
A=0.47058 (7887/16760, 8.3KJPN)
A=0.4469 (2862/6404, 1000G_30x)
A=0.4463 (2235/5008, 1000G)
A=0.4310 (1931/4480, Estonian)
A=0.3840 (1480/3854, ALSPAC)
A=0.3935 (1459/3708, TWINSUK)
A=0.4945 (1449/2930, KOREAN)
A=0.4405 (918/2084, HGDP_Stanford)
A=0.4641 (878/1892, HapMap)
G=0.4864 (891/1832, Korea1K)
A=0.407 (406/998, GoNL)
A=0.357 (214/600, NorthernSweden)
A=0.299 (129/432, SGDP_PRJ)
G=0.444 (96/216, Qatari)
G=0.476 (100/210, Vietnamese)
A=0.34 (28/82, Ancient Sardinia)
A=0.28 (13/46, Siberian)
A=0.47 (19/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CD27-AS1 : Intron Variant
CD27 : 2KB Upstream 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 202572 A=0.415220 G=0.584780
European Sub 172732 A=0.409739 G=0.590261
African Sub 9722 A=0.4148 G=0.5852
African Others Sub 348 A=0.443 G=0.557
African American Sub 9374 A=0.4138 G=0.5862
Asian Sub 702 A=0.474 G=0.526
East Asian Sub 556 A=0.466 G=0.534
Other Asian Sub 146 A=0.507 G=0.493
Latin American 1 Sub 842 A=0.490 G=0.510
Latin American 2 Sub 6880 A=0.5012 G=0.4988
South Asian Sub 5042 A=0.4484 G=0.5516
Other Sub 6652 A=0.4283 G=0.5717


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 A=0.424315 G=0.575685
Allele Frequency Aggregator Total Global 202572 A=0.415220 G=0.584780
Allele Frequency Aggregator European Sub 172732 A=0.409739 G=0.590261
Allele Frequency Aggregator African Sub 9722 A=0.4148 G=0.5852
Allele Frequency Aggregator Latin American 2 Sub 6880 A=0.5012 G=0.4988
Allele Frequency Aggregator Other Sub 6652 A=0.4283 G=0.5717
Allele Frequency Aggregator South Asian Sub 5042 A=0.4484 G=0.5516
Allele Frequency Aggregator Latin American 1 Sub 842 A=0.490 G=0.510
Allele Frequency Aggregator Asian Sub 702 A=0.474 G=0.526
gnomAD - Genomes Global Study-wide 140018 A=0.418318 G=0.581682
gnomAD - Genomes European Sub 75844 A=0.40426 G=0.59574
gnomAD - Genomes African Sub 41946 A=0.41735 G=0.58265
gnomAD - Genomes American Sub 13628 A=0.46874 G=0.53126
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.4816 G=0.5184
gnomAD - Genomes East Asian Sub 3126 A=0.4814 G=0.5186
gnomAD - Genomes Other Sub 2152 A=0.4238 G=0.5762
14KJPN JAPANESE Study-wide 28258 A=0.47367 G=0.52633
8.3KJPN JAPANESE Study-wide 16760 A=0.47058 G=0.52942
1000Genomes_30x Global Study-wide 6404 A=0.4469 G=0.5531
1000Genomes_30x African Sub 1786 A=0.4328 G=0.5672
1000Genomes_30x Europe Sub 1266 A=0.4218 G=0.5782
1000Genomes_30x South Asian Sub 1202 A=0.4484 G=0.5516
1000Genomes_30x East Asian Sub 1170 A=0.4991 G=0.5009
1000Genomes_30x American Sub 980 A=0.441 G=0.559
1000Genomes Global Study-wide 5008 A=0.4463 G=0.5537
1000Genomes African Sub 1322 A=0.4236 G=0.5764
1000Genomes East Asian Sub 1008 A=0.4990 G=0.5010
1000Genomes Europe Sub 1006 A=0.4195 G=0.5805
1000Genomes South Asian Sub 978 A=0.449 G=0.551
1000Genomes American Sub 694 A=0.448 G=0.552
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.4310 G=0.5690
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3840 G=0.6160
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3935 G=0.6065
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.4945 G=0.5055, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.4405 G=0.5595
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.477 G=0.523
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.493 G=0.507
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.523 G=0.477
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.384 G=0.616
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.293 G=0.707
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.463 G=0.537
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.18 G=0.82
HapMap Global Study-wide 1892 A=0.4641 G=0.5359
HapMap American Sub 770 A=0.461 G=0.539
HapMap African Sub 692 A=0.461 G=0.539
HapMap Asian Sub 254 A=0.480 G=0.520
HapMap Europe Sub 176 A=0.466 G=0.534
Korean Genome Project KOREAN Study-wide 1832 A=0.5136 G=0.4864
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.407 G=0.593
Northern Sweden ACPOP Study-wide 600 A=0.357 G=0.643
SGDP_PRJ Global Study-wide 432 A=0.299 G=0.701
Qatari Global Study-wide 216 A=0.556 G=0.444
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.524 G=0.476
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 A=0.34 G=0.66
Siberian Global Study-wide 46 A=0.28 G=0.72
The Danish reference pan genome Danish Study-wide 40 A=0.47 G=0.53
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 12 NC_000012.12:g.6443850A>G
GRCh38.p14 chr 12 NC_000012.12:g.6443850A>T
GRCh37.p13 chr 12 NC_000012.11:g.6553016A>G
GRCh37.p13 chr 12 NC_000012.11:g.6553016A>T
CD27 RefSeqGene (LRG_357) NG_031995.1:g.3966A>G
CD27 RefSeqGene (LRG_357) NG_031995.1:g.3966A>T
Gene: CD27, CD27 molecule (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
CD27 transcript variant 2 NM_001242.5:c. N/A Upstream Transcript Variant
CD27 transcript variant X3 XM_011521042.4:c. N/A Upstream Transcript Variant
CD27 transcript variant X1 XM_017020234.2:c. N/A Upstream Transcript Variant
CD27 transcript variant X2 XM_047429900.1:c. N/A Upstream Transcript Variant
Gene: CD27-AS1, CD27 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CD27-AS1 transcript NR_015382.2: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 A= G T
GRCh38.p14 chr 12 NC_000012.12:g.6443850= NC_000012.12:g.6443850A>G NC_000012.12:g.6443850A>T
GRCh37.p13 chr 12 NC_000012.11:g.6553016= NC_000012.11:g.6553016A>G NC_000012.11:g.6553016A>T
CD27 RefSeqGene (LRG_357) NG_031995.1:g.3966= NG_031995.1:g.3966A>G NG_031995.1:g.3966A>T
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#.

129 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3227101 Sep 28, 2001 (100)
2 SC_JCM ss3550183 Sep 28, 2001 (100)
3 FHCRC ss4384861 Mar 26, 2002 (103)
4 FHCRC ss4402840 May 29, 2002 (106)
5 SC_SNP ss15517970 Feb 27, 2004 (120)
6 EGP_SNPS ss16340777 Feb 28, 2004 (121)
7 CSHL-HAPMAP ss17450961 Feb 27, 2004 (120)
8 SSAHASNP ss20905264 Apr 05, 2004 (121)
9 PERLEGEN ss23782874 Sep 20, 2004 (123)
10 ABI ss38868342 Mar 15, 2006 (126)
11 ILLUMINA ss66806400 Nov 29, 2006 (127)
12 EGP_SNPS ss66857165 Nov 29, 2006 (127)
13 ILLUMINA ss67238008 Nov 29, 2006 (127)
14 ILLUMINA ss67634403 Nov 29, 2006 (127)
15 PERLEGEN ss69099787 May 16, 2007 (127)
16 ILLUMINA ss70716342 May 24, 2008 (130)
17 ILLUMINA ss71284318 May 16, 2007 (127)
18 ILLUMINA ss75819082 Dec 07, 2007 (129)
19 HGSV ss77531289 Dec 07, 2007 (129)
20 ILLUMINA ss79123484 Dec 15, 2007 (130)
21 KRIBB_YJKIM ss84009117 Dec 15, 2007 (130)
22 HGSV ss85599130 Dec 15, 2007 (130)
23 BCMHGSC_JDW ss88938643 Mar 24, 2008 (129)
24 1000GENOMES ss111427508 Jan 25, 2009 (130)
25 1000GENOMES ss113117473 Jan 25, 2009 (130)
26 ILLUMINA-UK ss118544274 Feb 14, 2009 (130)
27 ILLUMINA ss121967484 Dec 01, 2009 (131)
28 ENSEMBL ss132144319 Dec 01, 2009 (131)
29 ENSEMBL ss132977189 Dec 01, 2009 (131)
30 ILLUMINA ss153894561 Dec 01, 2009 (131)
31 GMI ss157059437 Dec 01, 2009 (131)
32 ILLUMINA ss159372696 Dec 01, 2009 (131)
33 ILLUMINA ss160522050 Dec 01, 2009 (131)
34 COMPLETE_GENOMICS ss168963164 Jul 04, 2010 (132)
35 ILLUMINA ss171124648 Jul 04, 2010 (132)
36 ILLUMINA ss173216241 Jul 04, 2010 (132)
37 BUSHMAN ss203500607 Jul 04, 2010 (132)
38 BCM-HGSC-SUB ss208123227 Jul 04, 2010 (132)
39 1000GENOMES ss225588713 Jul 14, 2010 (132)
40 1000GENOMES ss235809801 Jul 15, 2010 (132)
41 1000GENOMES ss242391288 Jul 15, 2010 (132)
42 GMI ss281257815 May 04, 2012 (137)
43 GMI ss286498848 Apr 25, 2013 (138)
44 PJP ss291315322 May 09, 2011 (134)
45 ILLUMINA ss480486281 May 04, 2012 (137)
46 ILLUMINA ss480500641 May 04, 2012 (137)
47 ILLUMINA ss481302485 Sep 08, 2015 (146)
48 ILLUMINA ss485040677 May 04, 2012 (137)
49 ILLUMINA ss537062448 Sep 08, 2015 (146)
50 TISHKOFF ss562972872 Apr 25, 2013 (138)
51 SSMP ss658498685 Apr 25, 2013 (138)
52 ILLUMINA ss778861109 Sep 08, 2015 (146)
53 ILLUMINA ss782966555 Sep 08, 2015 (146)
54 ILLUMINA ss783928356 Sep 08, 2015 (146)
55 ILLUMINA ss825454002 Apr 01, 2015 (144)
56 ILLUMINA ss832222832 Sep 08, 2015 (146)
57 ILLUMINA ss832884514 Jul 13, 2019 (153)
58 ILLUMINA ss834321898 Sep 08, 2015 (146)
59 EVA-GONL ss989201053 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1078222108 Aug 21, 2014 (142)
61 1000GENOMES ss1343865507 Aug 21, 2014 (142)
62 DDI ss1426831358 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1576092350 Apr 01, 2015 (144)
64 EVA_DECODE ss1598872854 Apr 01, 2015 (144)
65 EVA_UK10K_ALSPAC ss1627949909 Apr 01, 2015 (144)
66 EVA_UK10K_TWINSUK ss1670943942 Apr 01, 2015 (144)
67 EVA_SVP ss1713304402 Apr 01, 2015 (144)
68 ILLUMINA ss1752077292 Sep 08, 2015 (146)
69 HAMMER_LAB ss1807102881 Sep 08, 2015 (146)
70 WEILL_CORNELL_DGM ss1932562995 Feb 12, 2016 (147)
71 GENOMED ss1967514035 Jul 19, 2016 (147)
72 JJLAB ss2027028295 Sep 14, 2016 (149)
73 USC_VALOUEV ss2155348236 Dec 20, 2016 (150)
74 HUMAN_LONGEVITY ss2187538200 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2627991329 Nov 08, 2017 (151)
76 ILLUMINA ss2632920717 Nov 08, 2017 (151)
77 GRF ss2699669257 Nov 08, 2017 (151)
78 GNOMAD ss2906947639 Nov 08, 2017 (151)
79 SWEGEN ss3009142626 Nov 08, 2017 (151)
80 BIOINF_KMB_FNS_UNIBA ss3027318092 Nov 08, 2017 (151)
81 CSHL ss3349903976 Nov 08, 2017 (151)
82 ILLUMINA ss3626807785 Oct 12, 2018 (152)
83 ILLUMINA ss3630932604 Oct 12, 2018 (152)
84 ILLUMINA ss3633008977 Oct 12, 2018 (152)
85 ILLUMINA ss3633709414 Oct 12, 2018 (152)
86 ILLUMINA ss3634488757 Oct 12, 2018 (152)
87 ILLUMINA ss3635400484 Oct 12, 2018 (152)
88 ILLUMINA ss3636173057 Oct 12, 2018 (152)
89 ILLUMINA ss3637151430 Oct 12, 2018 (152)
90 ILLUMINA ss3637944944 Oct 12, 2018 (152)
91 ILLUMINA ss3638986524 Oct 12, 2018 (152)
92 ILLUMINA ss3639494916 Oct 12, 2018 (152)
93 ILLUMINA ss3640196091 Oct 12, 2018 (152)
94 ILLUMINA ss3642940118 Oct 12, 2018 (152)
95 URBANLAB ss3649755263 Oct 12, 2018 (152)
96 EGCUT_WGS ss3676474244 Jul 13, 2019 (153)
97 EVA_DECODE ss3693042939 Jul 13, 2019 (153)
98 ACPOP ss3738738170 Jul 13, 2019 (153)
99 ILLUMINA ss3744789481 Jul 13, 2019 (153)
100 EVA ss3750098668 Jul 13, 2019 (153)
101 ILLUMINA ss3772289071 Jul 13, 2019 (153)
102 PACBIO ss3787130457 Jul 13, 2019 (153)
103 PACBIO ss3792246232 Jul 13, 2019 (153)
104 PACBIO ss3797129044 Jul 13, 2019 (153)
105 KHV_HUMAN_GENOMES ss3815413682 Jul 13, 2019 (153)
106 EVA ss3832955665 Apr 26, 2020 (154)
107 EVA ss3840041158 Apr 26, 2020 (154)
108 EVA ss3845523753 Apr 26, 2020 (154)
109 HGDP ss3847440363 Apr 26, 2020 (154)
110 SGDP_PRJ ss3877611846 Apr 26, 2020 (154)
111 KRGDB ss3926111842 Apr 26, 2020 (154)
112 KOGIC ss3971208117 Apr 26, 2020 (154)
113 EVA ss3985573527 Apr 26, 2021 (155)
114 EVA ss4017572228 Apr 26, 2021 (155)
115 TOPMED ss4907540168 Apr 26, 2021 (155)
116 TOMMO_GENOMICS ss5204898796 Apr 26, 2021 (155)
117 1000G_HIGH_COVERAGE ss5289682801 Oct 16, 2022 (156)
118 EVA ss5315597766 Oct 16, 2022 (156)
119 EVA ss5403705297 Oct 16, 2022 (156)
120 HUGCELL_USP ss5484589126 Oct 16, 2022 (156)
121 1000G_HIGH_COVERAGE ss5586548221 Oct 16, 2022 (156)
122 SANFORD_IMAGENETICS ss5652519374 Oct 16, 2022 (156)
123 TOMMO_GENOMICS ss5753641681 Oct 16, 2022 (156)
124 EVA ss5799862718 Oct 16, 2022 (156)
125 YY_MCH ss5812973258 Oct 16, 2022 (156)
126 EVA ss5837539445 Oct 16, 2022 (156)
127 EVA ss5850245543 Oct 16, 2022 (156)
128 EVA ss5903153561 Oct 16, 2022 (156)
129 EVA ss5943869174 Oct 16, 2022 (156)
130 1000Genomes NC_000012.11 - 6553016 Oct 12, 2018 (152)
131 1000Genomes_30x NC_000012.12 - 6443850 Oct 16, 2022 (156)
132 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 6553016 Oct 12, 2018 (152)
133 Genetic variation in the Estonian population NC_000012.11 - 6553016 Oct 12, 2018 (152)
134 The Danish reference pan genome NC_000012.11 - 6553016 Apr 26, 2020 (154)
135 gnomAD - Genomes NC_000012.12 - 6443850 Apr 26, 2021 (155)
136 Genome of the Netherlands Release 5 NC_000012.11 - 6553016 Apr 26, 2020 (154)
137 HGDP-CEPH-db Supplement 1 NC_000012.10 - 6423277 Apr 26, 2020 (154)
138 HapMap NC_000012.12 - 6443850 Apr 26, 2020 (154)
139 KOREAN population from KRGDB NC_000012.11 - 6553016 Apr 26, 2020 (154)
140 Korean Genome Project NC_000012.12 - 6443850 Apr 26, 2020 (154)
141 Northern Sweden NC_000012.11 - 6553016 Jul 13, 2019 (153)
142 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 6553016 Apr 26, 2021 (155)
143 Qatari NC_000012.11 - 6553016 Apr 26, 2020 (154)
144 SGDP_PRJ NC_000012.11 - 6553016 Apr 26, 2020 (154)
145 Siberian NC_000012.11 - 6553016 Apr 26, 2020 (154)
146 8.3KJPN NC_000012.11 - 6553016 Apr 26, 2021 (155)
147 14KJPN NC_000012.12 - 6443850 Oct 16, 2022 (156)
148 TopMed NC_000012.12 - 6443850 Apr 26, 2021 (155)
149 UK 10K study - Twins NC_000012.11 - 6553016 Oct 12, 2018 (152)
150 A Vietnamese Genetic Variation Database NC_000012.11 - 6553016 Jul 13, 2019 (153)
151 ALFA NC_000012.12 - 6443850 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)
rs3181062 Jul 03, 2002 (106)
rs11569354 Apr 05, 2004 (121)
rs16932598 Oct 08, 2004 (123)
rs58661409 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77531289, ss85599130, ss3638986524, ss3639494916 NC_000012.9:6423276:A:G NC_000012.12:6443849:A:G (self)
118255, ss88938643, ss111427508, ss113117473, ss118544274, ss168963164, ss203500607, ss208123227, ss281257815, ss286498848, ss291315322, ss480486281, ss825454002, ss1598872854, ss1713304402, ss3642940118, ss3847440363 NC_000012.10:6423276:A:G NC_000012.12:6443849:A:G (self)
56479002, 31366461, 22212492, 2828566, 13991831, 33289236, 12023035, 799454, 14604925, 29628826, 7864590, 62868103, 31366461, 6957787, ss225588713, ss235809801, ss242391288, ss480500641, ss481302485, ss485040677, ss537062448, ss562972872, ss658498685, ss778861109, ss782966555, ss783928356, ss832222832, ss832884514, ss834321898, ss989201053, ss1078222108, ss1343865507, ss1426831358, ss1576092350, ss1627949909, ss1670943942, ss1752077292, ss1807102881, ss1932562995, ss1967514035, ss2027028295, ss2155348236, ss2627991329, ss2632920717, ss2699669257, ss2906947639, ss3009142626, ss3349903976, ss3626807785, ss3630932604, ss3633008977, ss3633709414, ss3634488757, ss3635400484, ss3636173057, ss3637151430, ss3637944944, ss3640196091, ss3676474244, ss3738738170, ss3744789481, ss3750098668, ss3772289071, ss3787130457, ss3792246232, ss3797129044, ss3832955665, ss3840041158, ss3877611846, ss3926111842, ss3985573527, ss4017572228, ss5204898796, ss5315597766, ss5403705297, ss5652519374, ss5799862718, ss5837539445, ss5943869174 NC_000012.11:6553015:A:G NC_000012.12:6443849:A:G (self)
74074156, 398277316, 749077, 27586118, 87478785, 123085825, 8494382210, ss2187538200, ss3027318092, ss3649755263, ss3693042939, ss3815413682, ss3845523753, ss3971208117, ss4907540168, ss5289682801, ss5484589126, ss5586548221, ss5753641681, ss5812973258, ss5850245543, ss5903153561 NC_000012.12:6443849:A:G NC_000012.12:6443849:A:G (self)
ss15517970, ss17450961, ss20905264 NT_009759.15:6407276:A:G NC_000012.12:6443849:A:G (self)
ss3227101, ss3550183, ss4384861, ss4402840, ss16340777, ss23782874, ss38868342, ss66806400, ss66857165, ss67238008, ss67634403, ss69099787, ss70716342, ss71284318, ss75819082, ss79123484, ss84009117, ss121967484, ss132144319, ss132977189, ss153894561, ss157059437, ss159372696, ss160522050, ss171124648, ss173216241 NT_009759.16:6493015:A:G NC_000012.12:6443849:A:G (self)
33289236, ss3926111842 NC_000012.11:6553015:A:T NC_000012.12:6443849:A: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 rs2250246

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
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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