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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.

rs2206277

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:50830813 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.191299 (50827/265694, ALFA)
T=0.195406 (51722/264690, TOPMED)
T=0.184966 (25903/140042, GnomAD) (+ 19 more)
T=0.22343 (17584/78700, PAGE_STUDY)
T=0.31542 (8913/28258, 14KJPN)
T=0.30967 (5190/16760, 8.3KJPN)
T=0.2052 (1314/6404, 1000G_30x)
T=0.2117 (1060/5008, 1000G)
T=0.2522 (1130/4480, Estonian)
T=0.1754 (676/3854, ALSPAC)
T=0.1775 (658/3708, TWINSUK)
T=0.3017 (884/2930, KOREAN)
T=0.145 (145/998, GoNL)
T=0.228 (180/790, PRJEB37584)
T=0.173 (104/600, NorthernSweden)
T=0.143 (46/322, HapMap)
C=0.419 (99/236, SGDP_PRJ)
T=0.185 (40/216, Qatari)
T=0.285 (61/214, Vietnamese)
T=0.05 (4/80, Ancient Sardinia)
T=0.17 (7/40, GENOME_DK)
C=0.36 (10/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TFAP2B : Intron Variant
Publications
3 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 265786 C=0.808707 T=0.191293
European Sub 231344 C=0.814666 T=0.185334
African Sub 9106 C=0.8517 T=0.1483
African Others Sub 346 C=0.841 T=0.159
African American Sub 8760 C=0.8522 T=0.1478
Asian Sub 3842 C=0.7254 T=0.2746
East Asian Sub 3086 C=0.7171 T=0.2829
Other Asian Sub 756 C=0.759 T=0.241
Latin American 1 Sub 1028 C=0.7656 T=0.2344
Latin American 2 Sub 6570 C=0.6146 T=0.3854
South Asian Sub 368 C=0.755 T=0.245
Other Sub 13528 C=0.80049 T=0.19951


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 265694 C=0.808701 T=0.191299
Allele Frequency Aggregator European Sub 231270 C=0.814667 T=0.185333
Allele Frequency Aggregator Other Sub 13510 C=0.80037 T=0.19963
Allele Frequency Aggregator African Sub 9106 C=0.8517 T=0.1483
Allele Frequency Aggregator Latin American 2 Sub 6570 C=0.6146 T=0.3854
Allele Frequency Aggregator Asian Sub 3842 C=0.7254 T=0.2746
Allele Frequency Aggregator Latin American 1 Sub 1028 C=0.7656 T=0.2344
Allele Frequency Aggregator South Asian Sub 368 C=0.755 T=0.245
TopMed Global Study-wide 264690 C=0.804594 T=0.195406
gnomAD - Genomes Global Study-wide 140042 C=0.815034 T=0.184966
gnomAD - Genomes European Sub 75846 C=0.81241 T=0.18759
gnomAD - Genomes African Sub 41958 C=0.85638 T=0.14362
gnomAD - Genomes American Sub 13636 C=0.71524 T=0.28476
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.8173 T=0.1827
gnomAD - Genomes East Asian Sub 3130 C=0.7588 T=0.2412
gnomAD - Genomes Other Sub 2150 C=0.8121 T=0.1879
The PAGE Study Global Study-wide 78700 C=0.77657 T=0.22343
The PAGE Study AfricanAmerican Sub 32516 C=0.85709 T=0.14291
The PAGE Study Mexican Sub 10810 C=0.60416 T=0.39584
The PAGE Study Asian Sub 8318 C=0.6922 T=0.3078
The PAGE Study PuertoRican Sub 7916 C=0.7617 T=0.2383
The PAGE Study NativeHawaiian Sub 4534 C=0.8352 T=0.1648
The PAGE Study Cuban Sub 4230 C=0.8149 T=0.1851
The PAGE Study Dominican Sub 3828 C=0.8132 T=0.1868
The PAGE Study CentralAmerican Sub 2450 C=0.6816 T=0.3184
The PAGE Study SouthAmerican Sub 1982 C=0.6705 T=0.3295
The PAGE Study NativeAmerican Sub 1260 C=0.7444 T=0.2556
The PAGE Study SouthAsian Sub 856 C=0.752 T=0.248
14KJPN JAPANESE Study-wide 28258 C=0.68458 T=0.31542
8.3KJPN JAPANESE Study-wide 16760 C=0.69033 T=0.30967
1000Genomes_30x Global Study-wide 6404 C=0.7948 T=0.2052
1000Genomes_30x African Sub 1786 C=0.8819 T=0.1181
1000Genomes_30x Europe Sub 1266 C=0.8254 T=0.1746
1000Genomes_30x South Asian Sub 1202 C=0.7662 T=0.2338
1000Genomes_30x East Asian Sub 1170 C=0.7718 T=0.2282
1000Genomes_30x American Sub 980 C=0.659 T=0.341
1000Genomes Global Study-wide 5008 C=0.7883 T=0.2117
1000Genomes African Sub 1322 C=0.8729 T=0.1271
1000Genomes East Asian Sub 1008 C=0.7659 T=0.2341
1000Genomes Europe Sub 1006 C=0.8181 T=0.1819
1000Genomes South Asian Sub 978 C=0.761 T=0.239
1000Genomes American Sub 694 C=0.656 T=0.344
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7478 T=0.2522
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8246 T=0.1754
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8225 T=0.1775
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6983 T=0.3017
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.855 T=0.145
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.772 T=0.228
CNV burdens in cranial meningiomas CRM Sub 790 C=0.772 T=0.228
Northern Sweden ACPOP Study-wide 600 C=0.827 T=0.173
HapMap Global Study-wide 322 C=0.857 T=0.143
HapMap African Sub 120 C=0.908 T=0.092
HapMap American Sub 114 C=0.904 T=0.096
HapMap Asian Sub 88 C=0.73 T=0.27
SGDP_PRJ Global Study-wide 236 C=0.419 T=0.581
Qatari Global Study-wide 216 C=0.815 T=0.185
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.715 T=0.285
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 C=0.95 T=0.05
The Danish reference pan genome Danish Study-wide 40 C=0.82 T=0.17
Siberian Global Study-wide 28 C=0.36 T=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 6 NC_000006.12:g.50830813C>T
GRCh37.p13 chr 6 NC_000006.11:g.50798526C>T
TFAP2B RefSeqGene NG_008438.1:g.17088C>T
Gene: TFAP2B, transcription factor AP-2 beta (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TFAP2B transcript NM_003221.4:c.601+2134C>T N/A Intron Variant
TFAP2B transcript variant X3 XM_011514837.3:c.628+2134…

XM_011514837.3:c.628+2134C>T

N/A Intron Variant
TFAP2B transcript variant X1 XM_017011233.2:c.766+2134…

XM_017011233.2:c.766+2134C>T

N/A Intron Variant
TFAP2B transcript variant X2 XM_017011234.2:c.730+2134…

XM_017011234.2:c.730+2134C>T

N/A Intron Variant
TFAP2B transcript variant X5 XM_017011235.3:c.142+2134…

XM_017011235.3:c.142+2134C>T

N/A Intron Variant
TFAP2B transcript variant X4 XR_007059334.1: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 C= T
GRCh38.p14 chr 6 NC_000006.12:g.50830813= NC_000006.12:g.50830813C>T
GRCh37.p13 chr 6 NC_000006.11:g.50798526= NC_000006.11:g.50798526C>T
TFAP2B RefSeqGene NG_008438.1:g.17088= NG_008438.1:g.17088C>T
TFAP2B transcript NM_003221.3:c.601+2134= NM_003221.3:c.601+2134C>T
TFAP2B transcript NM_003221.4:c.601+2134= NM_003221.4:c.601+2134C>T
TFAP2B transcript variant X1 XM_005249347.1:c.628+2134= XM_005249347.1:c.628+2134C>T
TFAP2B transcript variant X2 XM_005249348.1:c.649+497= XM_005249348.1:c.649+497C>T
TFAP2B transcript variant X3 XM_011514837.3:c.628+2134= XM_011514837.3:c.628+2134C>T
TFAP2B transcript variant X1 XM_017011233.2:c.766+2134= XM_017011233.2:c.766+2134C>T
TFAP2B transcript variant X2 XM_017011234.2:c.730+2134= XM_017011234.2:c.730+2134C>T
TFAP2B transcript variant X5 XM_017011235.3:c.142+2134= XM_017011235.3:c.142+2134C>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#.

113 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3147540 Jun 15, 2001 (96)
2 YUSUKE ss4984902 Aug 28, 2002 (108)
3 ABI ss44761295 Mar 14, 2006 (126)
4 BCMHGSC_JDW ss93458733 Mar 24, 2008 (129)
5 1000GENOMES ss110105504 Jan 24, 2009 (130)
6 ENSEMBL ss143904085 Dec 01, 2009 (131)
7 GMI ss156919715 Dec 01, 2009 (131)
8 ILLUMINA ss160514423 Dec 01, 2009 (131)
9 1000GENOMES ss222391139 Jul 14, 2010 (132)
10 1000GENOMES ss233470619 Jul 14, 2010 (132)
11 1000GENOMES ss240526926 Jul 15, 2010 (132)
12 GMI ss278792931 May 04, 2012 (137)
13 ILLUMINA ss410866034 Sep 17, 2011 (135)
14 ILLUMINA ss480463062 May 04, 2012 (137)
15 ILLUMINA ss480477298 May 04, 2012 (137)
16 ILLUMINA ss481271920 Sep 08, 2015 (146)
17 ILLUMINA ss485029022 May 04, 2012 (137)
18 EXOME_CHIP ss491387202 May 04, 2012 (137)
19 ILLUMINA ss537054115 Sep 08, 2015 (146)
20 TISHKOFF ss559202794 Apr 25, 2013 (138)
21 SSMP ss653146274 Apr 25, 2013 (138)
22 ILLUMINA ss778858776 Sep 08, 2015 (146)
23 ILLUMINA ss780683084 Sep 08, 2015 (146)
24 ILLUMINA ss782960774 Sep 08, 2015 (146)
25 ILLUMINA ss783356462 Sep 08, 2015 (146)
26 ILLUMINA ss783922863 Sep 08, 2015 (146)
27 ILLUMINA ss832216960 Sep 08, 2015 (146)
28 ILLUMINA ss834319523 Sep 08, 2015 (146)
29 EVA-GONL ss982930039 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1073614287 Aug 21, 2014 (142)
31 1000GENOMES ss1320126815 Aug 21, 2014 (142)
32 DDI ss1430720987 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1581671850 Apr 01, 2015 (144)
34 EVA_DECODE ss1592467092 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1615577859 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1658571892 Apr 01, 2015 (144)
37 ILLUMINA ss1752640702 Sep 08, 2015 (146)
38 ILLUMINA ss1752640703 Sep 08, 2015 (146)
39 HAMMER_LAB ss1804428094 Sep 08, 2015 (146)
40 ILLUMINA ss1917806653 Feb 12, 2016 (147)
41 WEILL_CORNELL_DGM ss1926186464 Feb 12, 2016 (147)
42 ILLUMINA ss1946180077 Feb 12, 2016 (147)
43 ILLUMINA ss1958910499 Feb 12, 2016 (147)
44 GENOMED ss1970395806 Jul 19, 2016 (147)
45 JJLAB ss2023733059 Sep 14, 2016 (149)
46 USC_VALOUEV ss2151912054 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2284078949 Dec 20, 2016 (150)
48 ILLUMINA ss2634453033 Nov 08, 2017 (151)
49 ILLUMINA ss2634453034 Nov 08, 2017 (151)
50 ILLUMINA ss2634453035 Nov 08, 2017 (151)
51 GRF ss2707511791 Nov 08, 2017 (151)
52 GNOMAD ss2838987280 Nov 08, 2017 (151)
53 AFFY ss2985370139 Nov 08, 2017 (151)
54 AFFY ss2986000984 Nov 08, 2017 (151)
55 SWEGEN ss2999059918 Nov 08, 2017 (151)
56 ILLUMINA ss3022622050 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3025658217 Nov 08, 2017 (151)
58 CSHL ss3346960848 Nov 08, 2017 (151)
59 ILLUMINA ss3629548975 Oct 12, 2018 (152)
60 ILLUMINA ss3629548976 Oct 12, 2018 (152)
61 ILLUMINA ss3632369668 Oct 12, 2018 (152)
62 ILLUMINA ss3633422109 Oct 12, 2018 (152)
63 ILLUMINA ss3634145038 Oct 12, 2018 (152)
64 ILLUMINA ss3635068326 Oct 12, 2018 (152)
65 ILLUMINA ss3635068327 Oct 12, 2018 (152)
66 ILLUMINA ss3635825862 Oct 12, 2018 (152)
67 ILLUMINA ss3636791099 Oct 12, 2018 (152)
68 ILLUMINA ss3637578678 Oct 12, 2018 (152)
69 ILLUMINA ss3640775626 Oct 12, 2018 (152)
70 ILLUMINA ss3640775627 Oct 12, 2018 (152)
71 ILLUMINA ss3644913127 Oct 12, 2018 (152)
72 ILLUMINA ss3653138896 Oct 12, 2018 (152)
73 ILLUMINA ss3654135628 Oct 12, 2018 (152)
74 EGCUT_WGS ss3666957873 Jul 13, 2019 (153)
75 EVA_DECODE ss3717206062 Jul 13, 2019 (153)
76 ILLUMINA ss3726347955 Jul 13, 2019 (153)
77 ACPOP ss3733502888 Jul 13, 2019 (153)
78 ILLUMINA ss3744555433 Jul 13, 2019 (153)
79 ILLUMINA ss3745368282 Jul 13, 2019 (153)
80 ILLUMINA ss3745368283 Jul 13, 2019 (153)
81 EVA ss3765019940 Jul 13, 2019 (153)
82 PAGE_CC ss3771294632 Jul 13, 2019 (153)
83 ILLUMINA ss3772861809 Jul 13, 2019 (153)
84 ILLUMINA ss3772861810 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3808164683 Jul 13, 2019 (153)
86 EVA ss3829922138 Apr 26, 2020 (154)
87 EVA ss3838438666 Apr 26, 2020 (154)
88 EVA ss3843883586 Apr 26, 2020 (154)
89 SGDP_PRJ ss3864577450 Apr 26, 2020 (154)
90 KRGDB ss3911391958 Apr 26, 2020 (154)
91 EVA ss3984569353 Apr 26, 2021 (155)
92 EVA ss3985223869 Apr 26, 2021 (155)
93 EVA ss4017275528 Apr 26, 2021 (155)
94 TOPMED ss4702943858 Apr 26, 2021 (155)
95 TOMMO_GENOMICS ss5177496292 Apr 26, 2021 (155)
96 1000G_HIGH_COVERAGE ss5268440631 Oct 13, 2022 (156)
97 EVA ss5315156803 Oct 13, 2022 (156)
98 EVA ss5365619762 Oct 13, 2022 (156)
99 HUGCELL_USP ss5466114209 Oct 13, 2022 (156)
100 EVA ss5508491439 Oct 13, 2022 (156)
101 1000G_HIGH_COVERAGE ss5554338004 Oct 13, 2022 (156)
102 SANFORD_IMAGENETICS ss5624629961 Oct 13, 2022 (156)
103 SANFORD_IMAGENETICS ss5640397133 Oct 13, 2022 (156)
104 TOMMO_GENOMICS ss5715539801 Oct 13, 2022 (156)
105 EVA ss5799689264 Oct 13, 2022 (156)
106 YY_MCH ss5807464917 Oct 13, 2022 (156)
107 EVA ss5842239994 Oct 13, 2022 (156)
108 EVA ss5847295637 Oct 13, 2022 (156)
109 EVA ss5848098381 Oct 13, 2022 (156)
110 EVA ss5855356451 Oct 13, 2022 (156)
111 EVA ss5883812488 Oct 13, 2022 (156)
112 EVA ss5968898698 Oct 13, 2022 (156)
113 EVA ss5979787627 Oct 13, 2022 (156)
114 1000Genomes NC_000006.11 - 50798526 Oct 12, 2018 (152)
115 1000Genomes_30x NC_000006.12 - 50830813 Oct 13, 2022 (156)
116 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 50798526 Oct 12, 2018 (152)
117 Genetic variation in the Estonian population NC_000006.11 - 50798526 Oct 12, 2018 (152)
118 The Danish reference pan genome NC_000006.11 - 50798526 Apr 26, 2020 (154)
119 gnomAD - Genomes NC_000006.12 - 50830813 Apr 26, 2021 (155)
120 Genome of the Netherlands Release 5 NC_000006.11 - 50798526 Apr 26, 2020 (154)
121 HapMap NC_000006.12 - 50830813 Apr 26, 2020 (154)
122 KOREAN population from KRGDB NC_000006.11 - 50798526 Apr 26, 2020 (154)
123 Northern Sweden NC_000006.11 - 50798526 Jul 13, 2019 (153)
124 The PAGE Study NC_000006.12 - 50830813 Jul 13, 2019 (153)
125 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 50798526 Apr 26, 2021 (155)
126 CNV burdens in cranial meningiomas NC_000006.11 - 50798526 Apr 26, 2021 (155)
127 Qatari NC_000006.11 - 50798526 Apr 26, 2020 (154)
128 SGDP_PRJ NC_000006.11 - 50798526 Apr 26, 2020 (154)
129 Siberian NC_000006.11 - 50798526 Apr 26, 2020 (154)
130 8.3KJPN NC_000006.11 - 50798526 Apr 26, 2021 (155)
131 14KJPN NC_000006.12 - 50830813 Oct 13, 2022 (156)
132 TopMed NC_000006.12 - 50830813 Apr 26, 2021 (155)
133 UK 10K study - Twins NC_000006.11 - 50798526 Oct 12, 2018 (152)
134 A Vietnamese Genetic Variation Database NC_000006.11 - 50798526 Jul 13, 2019 (153)
135 ALFA NC_000006.12 - 50830813 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)
rs3798522 Oct 09, 2002 (108)
rs386560883 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss93458733, ss110105504, ss278792931, ss480463062, ss1592467092 NC_000006.10:50906484:C:T NC_000006.12:50830812:C:T (self)
31915119, 17797860, 12696121, 7836789, 7919638, 18569352, 6787753, 449796, 118761, 8228394, 16594430, 4428408, 35465599, 17797860, 3949419, ss222391139, ss233470619, ss240526926, ss480477298, ss481271920, ss485029022, ss491387202, ss537054115, ss559202794, ss653146274, ss778858776, ss780683084, ss782960774, ss783356462, ss783922863, ss832216960, ss834319523, ss982930039, ss1073614287, ss1320126815, ss1430720987, ss1581671850, ss1615577859, ss1658571892, ss1752640702, ss1752640703, ss1804428094, ss1917806653, ss1926186464, ss1946180077, ss1958910499, ss1970395806, ss2023733059, ss2151912054, ss2634453033, ss2634453034, ss2634453035, ss2707511791, ss2838987280, ss2985370139, ss2986000984, ss2999059918, ss3022622050, ss3346960848, ss3629548975, ss3629548976, ss3632369668, ss3633422109, ss3634145038, ss3635068326, ss3635068327, ss3635825862, ss3636791099, ss3637578678, ss3640775626, ss3640775627, ss3644913127, ss3653138896, ss3654135628, ss3666957873, ss3733502888, ss3744555433, ss3745368282, ss3745368283, ss3765019940, ss3772861809, ss3772861810, ss3829922138, ss3838438666, ss3864577450, ss3911391958, ss3984569353, ss3985223869, ss4017275528, ss5177496292, ss5315156803, ss5365619762, ss5508491439, ss5624629961, ss5640397133, ss5799689264, ss5842239994, ss5847295637, ss5848098381, ss5968898698, ss5979787627 NC_000006.11:50798525:C:T NC_000006.12:50830812:C:T (self)
41863939, 225168316, 3131714, 516101, 49376905, 540321416, 960943076, ss2284078949, ss3025658217, ss3717206062, ss3726347955, ss3771294632, ss3808164683, ss3843883586, ss4702943858, ss5268440631, ss5466114209, ss5554338004, ss5715539801, ss5807464917, ss5855356451, ss5883812488 NC_000006.12:50830812:C:T NC_000006.12:50830812:C:T (self)
ss3147540, ss4984902, ss44761295, ss143904085, ss156919715, ss160514423, ss410866034 NT_007592.15:50738525:C:T NC_000006.12:50830812:C:T (self)
Help

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

3 citations for rs2206277
PMID Title Author Year Journal
21386085 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Kraja AT et al. 2011 Diabetes
23285067 Genetic polymorphisms of the main transcription factors for adiponectin gene promoter in regulation of adiponectin levels: association analysis in three European cohorts. Kedenko L et al. 2012 PloS one
35124268 Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19. Li J et al. 2022 Clinical gastroenterology and hepatology
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