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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.

rs13273442

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:42688874 (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=0.236585 (71424/301896, ALFA)
A=0.350402 (92748/264690, TOPMED)
A=0.343119 (48036/139998, GnomAD) (+ 22 more)
A=0.40512 (31883/78700, PAGE_STUDY)
A=0.14007 (3958/28258, 14KJPN)
A=0.14254 (2389/16760, 8.3KJPN)
A=0.3607 (2310/6404, 1000G_30x)
A=0.3530 (1768/5008, 1000G)
A=0.2304 (1032/4480, Estonian)
A=0.2239 (863/3854, ALSPAC)
A=0.2325 (862/3708, TWINSUK)
A=0.1751 (513/2930, KOREAN)
A=0.3018 (629/2084, HGDP_Stanford)
A=0.3753 (710/1892, HapMap)
A=0.1818 (333/1832, Korea1K)
A=0.3187 (362/1136, Daghestan)
A=0.200 (200/998, GoNL)
A=0.227 (179/788, PRJEB37584)
A=0.232 (139/600, NorthernSweden)
A=0.224 (109/486, SGDP_PRJ)
A=0.356 (77/216, Qatari)
A=0.159 (34/214, Vietnamese)
A=0.19 (10/52, Siberian)
A=0.17 (8/48, Ancient Sardinia)
A=0.25 (10/40, GENOME_DK)
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 301896 A=0.236585 G=0.763415
European Sub 267548 A=0.223672 G=0.776328
African Sub 7962 A=0.5966 G=0.4034
African Others Sub 318 A=0.676 G=0.324
African American Sub 7644 A=0.5933 G=0.4067
Asian Sub 3940 A=0.1893 G=0.8107
East Asian Sub 3194 A=0.1850 G=0.8150
Other Asian Sub 746 A=0.208 G=0.792
Latin American 1 Sub 1134 A=0.3448 G=0.6552
Latin American 2 Sub 7214 A=0.2412 G=0.7588
South Asian Sub 5224 A=0.2919 G=0.7081
Other Sub 8874 A=0.2737 G=0.7263


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
Allele Frequency Aggregator Total Global 301896 A=0.236585 G=0.763415
Allele Frequency Aggregator European Sub 267548 A=0.223672 G=0.776328
Allele Frequency Aggregator Other Sub 8874 A=0.2737 G=0.7263
Allele Frequency Aggregator African Sub 7962 A=0.5966 G=0.4034
Allele Frequency Aggregator Latin American 2 Sub 7214 A=0.2412 G=0.7588
Allele Frequency Aggregator South Asian Sub 5224 A=0.2919 G=0.7081
Allele Frequency Aggregator Asian Sub 3940 A=0.1893 G=0.8107
Allele Frequency Aggregator Latin American 1 Sub 1134 A=0.3448 G=0.6552
TopMed Global Study-wide 264690 A=0.350402 G=0.649598
gnomAD - Genomes Global Study-wide 139998 A=0.343119 G=0.656881
gnomAD - Genomes European Sub 75860 A=0.22378 G=0.77622
gnomAD - Genomes African Sub 41902 A=0.59761 G=0.40239
gnomAD - Genomes American Sub 13632 A=0.27318 G=0.72682
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.2895 G=0.7105
gnomAD - Genomes East Asian Sub 3130 A=0.2016 G=0.7984
gnomAD - Genomes Other Sub 2154 A=0.3264 G=0.6736
The PAGE Study Global Study-wide 78700 A=0.40512 G=0.59488
The PAGE Study AfricanAmerican Sub 32514 A=0.59088 G=0.40912
The PAGE Study Mexican Sub 10810 A=0.24912 G=0.75088
The PAGE Study Asian Sub 8318 A=0.1586 G=0.8414
The PAGE Study PuertoRican Sub 7918 A=0.3674 G=0.6326
The PAGE Study NativeHawaiian Sub 4534 A=0.2631 G=0.7369
The PAGE Study Cuban Sub 4230 A=0.2754 G=0.7246
The PAGE Study Dominican Sub 3828 A=0.4127 G=0.5873
The PAGE Study CentralAmerican Sub 2450 A=0.2751 G=0.7249
The PAGE Study SouthAmerican Sub 1982 A=0.2553 G=0.7447
The PAGE Study NativeAmerican Sub 1260 A=0.2905 G=0.7095
The PAGE Study SouthAsian Sub 856 A=0.311 G=0.689
14KJPN JAPANESE Study-wide 28258 A=0.14007 G=0.85993
8.3KJPN JAPANESE Study-wide 16760 A=0.14254 G=0.85746
1000Genomes_30x Global Study-wide 6404 A=0.3607 G=0.6393
1000Genomes_30x African Sub 1786 A=0.6596 G=0.3404
1000Genomes_30x Europe Sub 1266 A=0.2227 G=0.7773
1000Genomes_30x South Asian Sub 1202 A=0.2704 G=0.7296
1000Genomes_30x East Asian Sub 1170 A=0.2026 G=0.7974
1000Genomes_30x American Sub 980 A=0.294 G=0.706
1000Genomes Global Study-wide 5008 A=0.3530 G=0.6470
1000Genomes African Sub 1322 A=0.6543 G=0.3457
1000Genomes East Asian Sub 1008 A=0.2054 G=0.7946
1000Genomes Europe Sub 1006 A=0.2227 G=0.7773
1000Genomes South Asian Sub 978 A=0.273 G=0.727
1000Genomes American Sub 694 A=0.295 G=0.705
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.2304 G=0.7696
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2239 G=0.7761
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2325 G=0.7675
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.1751 G=0.8249, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.3018 G=0.6982
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.198 G=0.802
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.297 G=0.703
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.306 G=0.694
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.203 G=0.797
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.715 G=0.285
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.269 G=0.731
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.14 G=0.86
HapMap Global Study-wide 1892 A=0.3753 G=0.6247
HapMap American Sub 770 A=0.271 G=0.729
HapMap African Sub 692 A=0.608 G=0.392
HapMap Asian Sub 254 A=0.185 G=0.815
HapMap Europe Sub 176 A=0.188 G=0.812
Korean Genome Project KOREAN Study-wide 1832 A=0.1818 G=0.8182
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.3187 G=0.6813
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.334 G=0.666
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.264 G=0.736
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.295 G=0.705
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.278 G=0.722
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.32 G=0.68
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.47 G=0.53
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.200 G=0.800
CNV burdens in cranial meningiomas Global Study-wide 788 A=0.227 G=0.773
CNV burdens in cranial meningiomas CRM Sub 788 A=0.227 G=0.773
Northern Sweden ACPOP Study-wide 600 A=0.232 G=0.768
SGDP_PRJ Global Study-wide 486 A=0.224 G=0.776
Qatari Global Study-wide 216 A=0.356 G=0.644
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.159 G=0.841
Siberian Global Study-wide 52 A=0.19 G=0.81
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 48 A=0.17 G=0.83
The Danish reference pan genome Danish Study-wide 40 A=0.25 G=0.75
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.42688874A>G
GRCh38.p14 chr 8 NC_000008.11:g.42688874A>T
GRCh37.p13 chr 8 NC_000008.10:g.42544017A>G
GRCh37.p13 chr 8 NC_000008.10:g.42544017A>T
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 8 NC_000008.11:g.42688874= NC_000008.11:g.42688874A>G NC_000008.11:g.42688874A>T
GRCh37.p13 chr 8 NC_000008.10:g.42544017= NC_000008.10:g.42544017A>G NC_000008.10:g.42544017A>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#.

137 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss22747042 Apr 05, 2004 (121)
2 ABI ss44929278 Mar 14, 2006 (126)
3 ILLUMINA ss66799651 Nov 30, 2006 (127)
4 ILLUMINA ss67069767 Nov 30, 2006 (127)
5 ILLUMINA ss67398825 Nov 30, 2006 (127)
6 ILLUMINA ss70421900 May 17, 2007 (127)
7 ILLUMINA ss70600472 May 24, 2008 (130)
8 ILLUMINA ss71145530 May 17, 2007 (127)
9 ILLUMINA ss75852884 Dec 06, 2007 (129)
10 HGSV ss77494884 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss85313592 Dec 14, 2007 (130)
12 HGSV ss85527334 Dec 14, 2007 (130)
13 BCMHGSC_JDW ss93876364 Mar 25, 2008 (129)
14 HUMANGENOME_JCVI ss98069228 Feb 04, 2009 (130)
15 BGI ss105615053 Feb 04, 2009 (130)
16 1000GENOMES ss107989593 Jan 22, 2009 (130)
17 1000GENOMES ss115334122 Jan 25, 2009 (130)
18 ILLUMINA-UK ss115918513 Feb 14, 2009 (130)
19 ILLUMINA ss121634558 Dec 01, 2009 (131)
20 ENSEMBL ss143315538 Dec 01, 2009 (131)
21 ENSEMBL ss143421008 Dec 01, 2009 (131)
22 ILLUMINA ss153347461 Dec 01, 2009 (131)
23 GMI ss156307708 Dec 01, 2009 (131)
24 ILLUMINA ss159251830 Dec 01, 2009 (131)
25 ILLUMINA ss160327761 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss162360619 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss164532299 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss166572433 Jul 04, 2010 (132)
29 ILLUMINA ss170338549 Jul 04, 2010 (132)
30 ILLUMINA ss172375211 Jul 04, 2010 (132)
31 BUSHMAN ss199091869 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss208562079 Jul 04, 2010 (132)
33 1000GENOMES ss223674742 Jul 14, 2010 (132)
34 1000GENOMES ss234415965 Jul 15, 2010 (132)
35 1000GENOMES ss241276896 Jul 15, 2010 (132)
36 BL ss254293264 May 09, 2011 (134)
37 GMI ss279785887 May 04, 2012 (137)
38 GMI ss285835204 Apr 25, 2013 (138)
39 PJP ss294264633 May 09, 2011 (134)
40 ILLUMINA ss479900886 May 04, 2012 (137)
41 ILLUMINA ss479908929 May 04, 2012 (137)
42 ILLUMINA ss480527608 Sep 08, 2015 (146)
43 ILLUMINA ss484748775 May 04, 2012 (137)
44 ILLUMINA ss536843664 Sep 08, 2015 (146)
45 TISHKOFF ss560711609 Apr 25, 2013 (138)
46 SSMP ss655143596 Apr 25, 2013 (138)
47 ILLUMINA ss778424330 Sep 08, 2015 (146)
48 ILLUMINA ss782821118 Sep 08, 2015 (146)
49 ILLUMINA ss783786188 Sep 08, 2015 (146)
50 ILLUMINA ss825391174 Jul 19, 2016 (147)
51 ILLUMINA ss832074490 Sep 08, 2015 (146)
52 ILLUMINA ss832764091 Jul 13, 2019 (153)
53 ILLUMINA ss833879720 Sep 08, 2015 (146)
54 EVA-GONL ss985446926 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1075471102 Aug 21, 2014 (142)
56 1000GENOMES ss1329584023 Aug 21, 2014 (142)
57 HAMMER_LAB ss1397524668 Sep 08, 2015 (146)
58 DDI ss1431493710 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1582660803 Apr 01, 2015 (144)
60 EVA_DECODE ss1595044559 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1620494134 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1663488167 Apr 01, 2015 (144)
63 EVA_SVP ss1713033093 Apr 01, 2015 (144)
64 ILLUMINA ss1752732662 Sep 08, 2015 (146)
65 HAMMER_LAB ss1805508383 Sep 08, 2015 (146)
66 WEILL_CORNELL_DGM ss1928736205 Feb 12, 2016 (147)
67 ILLUMINA ss1946235855 Feb 12, 2016 (147)
68 ILLUMINA ss1959106884 Feb 12, 2016 (147)
69 GENOMED ss1970968437 Jul 19, 2016 (147)
70 JJLAB ss2025071066 Sep 14, 2016 (149)
71 USC_VALOUEV ss2153293478 Dec 20, 2016 (150)
72 HUMAN_LONGEVITY ss2302695172 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2627017625 Nov 08, 2017 (151)
74 ILLUMINA ss2634741433 Nov 08, 2017 (151)
75 GRF ss2709059629 Nov 08, 2017 (151)
76 ILLUMINA ss2711136895 Nov 08, 2017 (151)
77 GNOMAD ss2865985183 Nov 08, 2017 (151)
78 AFFY ss2986081399 Nov 08, 2017 (151)
79 SWEGEN ss3003068282 Nov 08, 2017 (151)
80 ILLUMINA ss3022841268 Nov 08, 2017 (151)
81 BIOINF_KMB_FNS_UNIBA ss3026325451 Nov 08, 2017 (151)
82 CSHL ss3348154776 Nov 08, 2017 (151)
83 ILLUMINA ss3625951005 Oct 12, 2018 (152)
84 ILLUMINA ss3630049792 Oct 12, 2018 (152)
85 ILLUMINA ss3632640773 Oct 12, 2018 (152)
86 ILLUMINA ss3633499197 Oct 12, 2018 (152)
87 ILLUMINA ss3634225920 Oct 12, 2018 (152)
88 ILLUMINA ss3635169784 Oct 12, 2018 (152)
89 ILLUMINA ss3635904752 Oct 12, 2018 (152)
90 ILLUMINA ss3636907162 Oct 12, 2018 (152)
91 ILLUMINA ss3637657920 Oct 12, 2018 (152)
92 ILLUMINA ss3638757498 Oct 12, 2018 (152)
93 ILLUMINA ss3639381249 Oct 12, 2018 (152)
94 ILLUMINA ss3639719686 Oct 12, 2018 (152)
95 ILLUMINA ss3640877074 Oct 12, 2018 (152)
96 ILLUMINA ss3643688544 Oct 12, 2018 (152)
97 ILLUMINA ss3644969058 Oct 12, 2018 (152)
98 URBANLAB ss3648903266 Oct 12, 2018 (152)
99 ILLUMINA ss3653382944 Oct 12, 2018 (152)
100 EGCUT_WGS ss3670762672 Jul 13, 2019 (153)
101 EVA_DECODE ss3721891081 Jul 13, 2019 (153)
102 ILLUMINA ss3726533970 Jul 13, 2019 (153)
103 ACPOP ss3735610923 Jul 13, 2019 (153)
104 ILLUMINA ss3744305238 Jul 13, 2019 (153)
105 ILLUMINA ss3745469657 Jul 13, 2019 (153)
106 EVA ss3767922349 Jul 13, 2019 (153)
107 PAGE_CC ss3771439465 Jul 13, 2019 (153)
108 ILLUMINA ss3772962108 Jul 13, 2019 (153)
109 KHV_HUMAN_GENOMES ss3811082751 Jul 13, 2019 (153)
110 EVA ss3831137488 Apr 26, 2020 (154)
111 EVA ss3839078941 Apr 26, 2020 (154)
112 EVA ss3844537788 Apr 26, 2020 (154)
113 HGDP ss3847912236 Apr 26, 2020 (154)
114 SGDP_PRJ ss3869787684 Apr 26, 2020 (154)
115 KRGDB ss3917246034 Apr 26, 2020 (154)
116 KOGIC ss3963730552 Apr 26, 2020 (154)
117 EVA ss3984604740 Apr 26, 2021 (155)
118 EVA ss3985357374 Apr 26, 2021 (155)
119 EVA ss4017388021 Apr 26, 2021 (155)
120 TOPMED ss4783788191 Apr 26, 2021 (155)
121 TOMMO_GENOMICS ss5188402568 Apr 26, 2021 (155)
122 1000G_HIGH_COVERAGE ss5276912064 Oct 14, 2022 (156)
123 EVA ss5315329017 Oct 14, 2022 (156)
124 EVA ss5380725447 Oct 14, 2022 (156)
125 HUGCELL_USP ss5473511187 Oct 14, 2022 (156)
126 EVA ss5509329373 Oct 14, 2022 (156)
127 1000G_HIGH_COVERAGE ss5567134059 Oct 14, 2022 (156)
128 SANFORD_IMAGENETICS ss5624692484 Oct 14, 2022 (156)
129 SANFORD_IMAGENETICS ss5645252553 Oct 14, 2022 (156)
130 TOMMO_GENOMICS ss5730238930 Oct 14, 2022 (156)
131 EVA ss5799754876 Oct 14, 2022 (156)
132 YY_MCH ss5809653499 Oct 14, 2022 (156)
133 EVA ss5830447555 Oct 14, 2022 (156)
134 EVA ss5848175333 Oct 14, 2022 (156)
135 EVA ss5856353305 Oct 14, 2022 (156)
136 EVA ss5888700686 Oct 14, 2022 (156)
137 EVA ss5974453380 Oct 14, 2022 (156)
138 1000Genomes NC_000008.10 - 42544017 Oct 12, 2018 (152)
139 1000Genomes_30x NC_000008.11 - 42688874 Oct 14, 2022 (156)
140 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 42544017 Oct 12, 2018 (152)
141 Genome-wide autozygosity in Daghestan NC_000008.9 - 42663174 Apr 26, 2020 (154)
142 Genetic variation in the Estonian population NC_000008.10 - 42544017 Oct 12, 2018 (152)
143 The Danish reference pan genome NC_000008.10 - 42544017 Apr 26, 2020 (154)
144 gnomAD - Genomes NC_000008.11 - 42688874 Apr 26, 2021 (155)
145 Genome of the Netherlands Release 5 NC_000008.10 - 42544017 Apr 26, 2020 (154)
146 HGDP-CEPH-db Supplement 1 NC_000008.9 - 42663174 Apr 26, 2020 (154)
147 HapMap NC_000008.11 - 42688874 Apr 26, 2020 (154)
148 KOREAN population from KRGDB NC_000008.10 - 42544017 Apr 26, 2020 (154)
149 Korean Genome Project NC_000008.11 - 42688874 Apr 26, 2020 (154)
150 Northern Sweden NC_000008.10 - 42544017 Jul 13, 2019 (153)
151 The PAGE Study NC_000008.11 - 42688874 Jul 13, 2019 (153)
152 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 42544017 Apr 26, 2021 (155)
153 CNV burdens in cranial meningiomas NC_000008.10 - 42544017 Apr 26, 2021 (155)
154 Qatari NC_000008.10 - 42544017 Apr 26, 2020 (154)
155 SGDP_PRJ NC_000008.10 - 42544017 Apr 26, 2020 (154)
156 Siberian NC_000008.10 - 42544017 Apr 26, 2020 (154)
157 8.3KJPN NC_000008.10 - 42544017 Apr 26, 2021 (155)
158 14KJPN NC_000008.11 - 42688874 Oct 14, 2022 (156)
159 TopMed NC_000008.11 - 42688874 Apr 26, 2021 (155)
160 UK 10K study - Twins NC_000008.10 - 42544017 Oct 12, 2018 (152)
161 A Vietnamese Genetic Variation Database NC_000008.10 - 42544017 Jul 13, 2019 (153)
162 ALFA NC_000008.11 - 42688874 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)
rs57858456 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
498515, 590128, ss77494884, ss85527334, ss93876364, ss107989593, ss115334122, ss115918513, ss162360619, ss164532299, ss166572433, ss199091869, ss208562079, ss254293264, ss279785887, ss285835204, ss294264633, ss479900886, ss825391174, ss1397524668, ss1595044559, ss1713033093, ss3639381249, ss3639719686, ss3643688544, ss3847912236 NC_000008.9:42663173:A:G NC_000008.11:42688873:A:G (self)
41700943, 23191731, 16500920, 8825741, 10356764, 24423428, 8895788, 583301, 154178, 10778135, 21804664, 5809832, 46371875, 23191731, 5166016, ss223674742, ss234415965, ss241276896, ss479908929, ss480527608, ss484748775, ss536843664, ss560711609, ss655143596, ss778424330, ss782821118, ss783786188, ss832074490, ss832764091, ss833879720, ss985446926, ss1075471102, ss1329584023, ss1431493710, ss1582660803, ss1620494134, ss1663488167, ss1752732662, ss1805508383, ss1928736205, ss1946235855, ss1959106884, ss1970968437, ss2025071066, ss2153293478, ss2627017625, ss2634741433, ss2709059629, ss2711136895, ss2865985183, ss2986081399, ss3003068282, ss3022841268, ss3348154776, ss3625951005, ss3630049792, ss3632640773, ss3633499197, ss3634225920, ss3635169784, ss3635904752, ss3636907162, ss3637657920, ss3638757498, ss3640877074, ss3644969058, ss3653382944, ss3670762672, ss3735610923, ss3744305238, ss3745469657, ss3767922349, ss3772962108, ss3831137488, ss3839078941, ss3869787684, ss3917246034, ss3984604740, ss3985357374, ss4017388021, ss5188402568, ss5315329017, ss5380725447, ss5509329373, ss5624692484, ss5645252553, ss5799754876, ss5830447555, ss5848175333, ss5974453380 NC_000008.10:42544016:A:G NC_000008.11:42688873:A:G (self)
54659994, 294035130, 3613787, 20108553, 660934, 64076034, 621165751, 8620180599, ss2302695172, ss3026325451, ss3648903266, ss3721891081, ss3726533970, ss3771439465, ss3811082751, ss3844537788, ss3963730552, ss4783788191, ss5276912064, ss5473511187, ss5567134059, ss5730238930, ss5809653499, ss5856353305, ss5888700686 NC_000008.11:42688873:A:G NC_000008.11:42688873:A:G (self)
ss22747042 NT_008251.14:4606281:A:G NC_000008.11:42688873:A:G (self)
ss44929278, ss66799651, ss67069767, ss67398825, ss70421900, ss70600472, ss71145530, ss75852884, ss85313592, ss98069228, ss105615053, ss121634558, ss143315538, ss143421008, ss153347461, ss156307708, ss159251830, ss160327761, ss170338549, ss172375211 NT_167187.1:30402162:A:G NC_000008.11:42688873:A:G (self)
24423428, ss3917246034 NC_000008.10:42544016:A:T NC_000008.11:42688873: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.

4 citations for rs13273442
PMID Title Author Year Journal
24401102 Multiple distinct CHRNB3-CHRNA6 variants are genetic risk factors for nicotine dependence in African Americans and European Americans. Culverhouse RC et al. 2014 Addiction (Abingdon, England)
26044620 Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction. Reyes-Gibby CC et al. 2015 BMC systems biology
27166759 Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions. Yang J et al. 2016 Molecular psychiatry
27827986 Replicated Risk Nicotinic Cholinergic Receptor Genes for Nicotine Dependence. Zuo L et al. 2016 Genes
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