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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.

rs12204127

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:89988555 (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=0.147346 (39001/264690, TOPMED)
T=0.215232 (44139/205076, GENOGRAPHIC)
T=0.158358 (22173/140018, GnomAD) (+ 24 more)
T=0.208776 (25094/120196, ALFA)
T=0.08992 (7076/78696, PAGE_STUDY)
T=0.05726 (1618/28258, 14KJPN)
T=0.05615 (941/16760, 8.3KJPN)
T=0.1013 (649/6404, 1000G_30x)
T=0.1058 (530/5008, 1000G)
T=0.1701 (762/4480, Estonian)
T=0.2159 (832/3854, ALSPAC)
T=0.2460 (912/3708, TWINSUK)
T=0.0496 (145/2922, KOREAN)
T=0.1291 (269/2084, HGDP_Stanford)
T=0.0508 (93/1832, Korea1K)
T=0.1041 (186/1786, HapMap)
T=0.2288 (259/1132, Daghestan)
T=0.233 (233/998, GoNL)
T=0.032 (25/790, PRJEB37584)
T=0.197 (118/600, NorthernSweden)
T=0.296 (64/216, Qatari)
T=0.084 (18/214, Vietnamese)
C=0.45 (45/100, SGDP_PRJ)
T=0.36 (18/50, Ancient Sardinia)
T=0.23 (9/40, GENOME_DK)
C=0.50 (6/12, Siberian)
T=0.50 (6/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BACH2 : Intron Variant
Publications
1 citation
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 125230 C=0.792470 T=0.207530
European Sub 107456 C=0.778477 T=0.221523
African Sub 6360 C=0.9458 T=0.0542
African Others Sub 236 C=0.979 T=0.021
African American Sub 6124 C=0.9445 T=0.0555
Asian Sub 282 C=0.936 T=0.064
East Asian Sub 240 C=0.942 T=0.058
Other Asian Sub 42 C=0.90 T=0.10
Latin American 1 Sub 268 C=0.854 T=0.146
Latin American 2 Sub 1316 C=0.8853 T=0.1147
South Asian Sub 4980 C=0.8303 T=0.1697
Other Sub 4568 C=0.8277 T=0.1723


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 C=0.852654 T=0.147346
Genographic Project Global Study-wide 205076 C=0.784768 T=0.215232
gnomAD - Genomes Global Study-wide 140018 C=0.841642 T=0.158358
gnomAD - Genomes European Sub 75820 C=0.77757 T=0.22243
gnomAD - Genomes African Sub 41960 C=0.94321 T=0.05679
gnomAD - Genomes American Sub 13630 C=0.87212 T=0.12788
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.7881 T=0.2119
gnomAD - Genomes East Asian Sub 3134 C=0.9576 T=0.0424
gnomAD - Genomes Other Sub 2152 C=0.8397 T=0.1603
Allele Frequency Aggregator Total Global 120196 C=0.791224 T=0.208776
Allele Frequency Aggregator European Sub 104364 C=0.778832 T=0.221168
Allele Frequency Aggregator African Sub 5218 C=0.9442 T=0.0558
Allele Frequency Aggregator South Asian Sub 4980 C=0.8303 T=0.1697
Allele Frequency Aggregator Other Sub 3768 C=0.8227 T=0.1773
Allele Frequency Aggregator Latin American 2 Sub 1316 C=0.8853 T=0.1147
Allele Frequency Aggregator Asian Sub 282 C=0.936 T=0.064
Allele Frequency Aggregator Latin American 1 Sub 268 C=0.854 T=0.146
The PAGE Study Global Study-wide 78696 C=0.91008 T=0.08992
The PAGE Study AfricanAmerican Sub 32510 C=0.93827 T=0.06173
The PAGE Study Mexican Sub 10810 C=0.88363 T=0.11637
The PAGE Study Asian Sub 8318 C=0.9477 T=0.0523
The PAGE Study PuertoRican Sub 7918 C=0.8674 T=0.1326
The PAGE Study NativeHawaiian Sub 4534 C=0.9169 T=0.0831
The PAGE Study Cuban Sub 4230 C=0.8348 T=0.1652
The PAGE Study Dominican Sub 3828 C=0.8801 T=0.1199
The PAGE Study CentralAmerican Sub 2450 C=0.8992 T=0.1008
The PAGE Study SouthAmerican Sub 1982 C=0.8870 T=0.1130
The PAGE Study NativeAmerican Sub 1260 C=0.8548 T=0.1452
The PAGE Study SouthAsian Sub 856 C=0.840 T=0.160
14KJPN JAPANESE Study-wide 28258 C=0.94274 T=0.05726
8.3KJPN JAPANESE Study-wide 16760 C=0.94385 T=0.05615
1000Genomes_30x Global Study-wide 6404 C=0.8987 T=0.1013
1000Genomes_30x African Sub 1786 C=0.9731 T=0.0269
1000Genomes_30x Europe Sub 1266 C=0.7923 T=0.2077
1000Genomes_30x South Asian Sub 1202 C=0.8586 T=0.1414
1000Genomes_30x East Asian Sub 1170 C=0.9530 T=0.0470
1000Genomes_30x American Sub 980 C=0.885 T=0.115
1000Genomes Global Study-wide 5008 C=0.8942 T=0.1058
1000Genomes African Sub 1322 C=0.9720 T=0.0280
1000Genomes East Asian Sub 1008 C=0.9524 T=0.0476
1000Genomes Europe Sub 1006 C=0.7823 T=0.2177
1000Genomes South Asian Sub 978 C=0.858 T=0.142
1000Genomes American Sub 694 C=0.875 T=0.125
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8299 T=0.1701
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7841 T=0.2159
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7540 T=0.2460
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9504 T=0.0496
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8709 T=0.1291
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.949 T=0.051
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.833 T=0.167
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.777 T=0.223
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.791 T=0.209
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.897 T=0.103
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.981 T=0.019
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.97 T=0.03
Korean Genome Project KOREAN Study-wide 1832 C=0.9492 T=0.0508
HapMap Global Study-wide 1786 C=0.8959 T=0.1041
HapMap American Sub 770 C=0.887 T=0.113
HapMap African Sub 586 C=0.918 T=0.082
HapMap Asian Sub 254 C=0.953 T=0.047
HapMap Europe Sub 176 C=0.778 T=0.222
Genome-wide autozygosity in Daghestan Global Study-wide 1132 C=0.7712 T=0.2288
Genome-wide autozygosity in Daghestan Daghestan Sub 624 C=0.729 T=0.271
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.785 T=0.215
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.877 T=0.123
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.806 T=0.194
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.86 T=0.14
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.75 T=0.25
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.767 T=0.233
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.968 T=0.032
CNV burdens in cranial meningiomas CRM Sub 790 C=0.968 T=0.032
Northern Sweden ACPOP Study-wide 600 C=0.803 T=0.197
Qatari Global Study-wide 216 C=0.704 T=0.296
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.916 T=0.084
SGDP_PRJ Global Study-wide 100 C=0.45 T=0.55
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 50 C=0.64 T=0.36
The Danish reference pan genome Danish Study-wide 40 C=0.78 T=0.23
Siberian Global Study-wide 12 C=0.50 T=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 6 NC_000006.12:g.89988555C>T
GRCh37.p13 chr 6 NC_000006.11:g.90698274C>T
Gene: BACH2, BTB domain and CNC homolog 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BACH2 transcript variant 2 NM_001170794.2:c.243+2004…

NM_001170794.2:c.243+20047G>A

N/A Intron Variant
BACH2 transcript variant 1 NM_021813.4:c.243+20047G>A 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.89988555= NC_000006.12:g.89988555C>T
GRCh37.p13 chr 6 NC_000006.11:g.90698274= NC_000006.11:g.90698274C>T
BACH2 transcript variant 2 NM_001170794.1:c.243+20047= NM_001170794.1:c.243+20047G>A
BACH2 transcript variant 2 NM_001170794.2:c.243+20047= NM_001170794.2:c.243+20047G>A
BACH2 transcript variant 1 NM_021813.2:c.243+20047= NM_021813.2:c.243+20047G>A
BACH2 transcript variant 1 NM_021813.4:c.243+20047= NM_021813.4:c.243+20047G>A
BACH2 transcript variant X1 XM_005248758.1:c.351+20047= XM_005248758.1:c.351+20047G>A
BACH2 transcript variant X2 XM_005248759.1:c.243+20047= XM_005248759.1:c.243+20047G>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#.

106 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18387105 Feb 28, 2004 (120)
2 ILLUMINA ss66669439 Dec 01, 2006 (127)
3 ILLUMINA ss66990077 Dec 01, 2006 (127)
4 ILLUMINA ss67164906 Dec 01, 2006 (127)
5 PERLEGEN ss68983639 May 17, 2007 (127)
6 ILLUMINA ss70406529 May 17, 2007 (127)
7 ILLUMINA ss70559627 May 23, 2008 (130)
8 ILLUMINA ss71097498 May 17, 2007 (127)
9 ILLUMINA ss75587945 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss85196366 Dec 14, 2007 (130)
11 BCMHGSC_JDW ss93514713 Mar 24, 2008 (129)
12 SNP500CANCER ss105438778 Feb 04, 2009 (130)
13 ILLUMINA ss121545605 Dec 01, 2009 (131)
14 ENSEMBL ss144140051 Dec 01, 2009 (131)
15 ILLUMINA ss153153228 Dec 01, 2009 (131)
16 ILLUMINA ss159208035 Dec 01, 2009 (131)
17 ILLUMINA ss170070854 Jul 04, 2010 (132)
18 ILLUMINA ss171928747 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss207437253 Jul 04, 2010 (132)
20 1000GENOMES ss233580240 Jul 15, 2010 (132)
21 1000GENOMES ss240614861 Jul 15, 2010 (132)
22 GMI ss278916724 May 04, 2012 (137)
23 PJP ss293661326 May 09, 2011 (134)
24 ILLUMINA ss484219728 May 04, 2012 (137)
25 ILLUMINA ss485301915 May 04, 2012 (137)
26 ILLUMINA ss536406398 Sep 08, 2015 (146)
27 TISHKOFF ss559363905 Apr 25, 2013 (138)
28 SSMP ss653365611 Apr 25, 2013 (138)
29 ILLUMINA ss780571739 Sep 08, 2015 (146)
30 ILLUMINA ss782555878 Sep 08, 2015 (146)
31 ILLUMINA ss825375803 Apr 01, 2015 (144)
32 ILLUMINA ss832720456 Jul 13, 2019 (153)
33 ILLUMINA ss836064233 Sep 08, 2015 (146)
34 EVA-GONL ss983220510 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1073822789 Aug 21, 2014 (142)
36 1000GENOMES ss1321217662 Aug 21, 2014 (142)
37 HAMMER_LAB ss1397463002 Sep 08, 2015 (146)
38 DDI ss1430816264 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1581787496 Apr 01, 2015 (144)
40 EVA_DECODE ss1592773017 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1616131043 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1659125076 Apr 01, 2015 (144)
43 EVA_SVP ss1712880956 Apr 01, 2015 (144)
44 HAMMER_LAB ss1804554574 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1926476893 Feb 12, 2016 (147)
46 ILLUMINA ss1946185605 Feb 12, 2016 (147)
47 ILLUMINA ss1958932144 Feb 12, 2016 (147)
48 JJLAB ss2023882191 Sep 14, 2016 (149)
49 USC_VALOUEV ss2152074538 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2286120966 Dec 20, 2016 (150)
51 ILLUMINA ss2634480829 Nov 08, 2017 (151)
52 ILLUMINA ss2634480830 Nov 08, 2017 (151)
53 GRF ss2707693508 Nov 08, 2017 (151)
54 ILLUMINA ss2711084015 Nov 08, 2017 (151)
55 GNOMAD ss2842067441 Nov 08, 2017 (151)
56 SWEGEN ss2999524762 Nov 08, 2017 (151)
57 ILLUMINA ss3022645017 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3025735167 Nov 08, 2017 (151)
59 CSHL ss3347107346 Nov 08, 2017 (151)
60 ILLUMINA ss3625907367 Oct 12, 2018 (152)
61 ILLUMINA ss3629600358 Oct 12, 2018 (152)
62 ILLUMINA ss3632395749 Oct 12, 2018 (152)
63 ILLUMINA ss3638643511 Oct 12, 2018 (152)
64 ILLUMINA ss3639322336 Oct 12, 2018 (152)
65 ILLUMINA ss3639687536 Oct 12, 2018 (152)
66 ILLUMINA ss3642503129 Oct 12, 2018 (152)
67 ILLUMINA ss3643583623 Oct 12, 2018 (152)
68 ILLUMINA ss3644918695 Oct 12, 2018 (152)
69 URBANLAB ss3648414492 Oct 12, 2018 (152)
70 ILLUMINA ss3653162835 Oct 12, 2018 (152)
71 EGCUT_WGS ss3667406693 Jul 13, 2019 (153)
72 EVA_DECODE ss3717748785 Jul 13, 2019 (153)
73 ILLUMINA ss3726364759 Jul 13, 2019 (153)
74 ACPOP ss3733749009 Jul 13, 2019 (153)
75 ILLUMINA ss3744275049 Jul 13, 2019 (153)
76 EVA ss3765346892 Jul 13, 2019 (153)
77 PAGE_CC ss3771308030 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3808497785 Jul 13, 2019 (153)
79 EVA ss3830064577 Apr 26, 2020 (154)
80 HGDP ss3847841978 Apr 26, 2020 (154)
81 SGDP_PRJ ss3865153338 Apr 26, 2020 (154)
82 KRGDB ss3912050546 Apr 26, 2020 (154)
83 KOGIC ss3959566572 Apr 26, 2020 (154)
84 EVA ss3984572766 Apr 26, 2021 (155)
85 EVA ss3985236753 Apr 26, 2021 (155)
86 EVA ss4017287105 Apr 26, 2021 (155)
87 TOPMED ss4712448325 Apr 26, 2021 (155)
88 TOMMO_GENOMICS ss5178730121 Apr 26, 2021 (155)
89 EVA ss5237402686 Apr 26, 2021 (155)
90 1000G_HIGH_COVERAGE ss5269412132 Oct 14, 2022 (156)
91 GENOGRAPHIC ss5314514889 Oct 14, 2022 (156)
92 EVA ss5315172734 Oct 14, 2022 (156)
93 EVA ss5367321988 Oct 14, 2022 (156)
94 HUGCELL_USP ss5466945718 Oct 14, 2022 (156)
95 1000G_HIGH_COVERAGE ss5555846342 Oct 14, 2022 (156)
96 SANFORD_IMAGENETICS ss5624635658 Oct 14, 2022 (156)
97 SANFORD_IMAGENETICS ss5640958522 Oct 14, 2022 (156)
98 TOMMO_GENOMICS ss5717263355 Oct 14, 2022 (156)
99 YY_MCH ss5807722615 Oct 14, 2022 (156)
100 EVA ss5842629750 Oct 14, 2022 (156)
101 EVA ss5847299151 Oct 14, 2022 (156)
102 EVA ss5848105538 Oct 14, 2022 (156)
103 EVA ss5855468316 Oct 14, 2022 (156)
104 EVA ss5884883085 Oct 14, 2022 (156)
105 EVA ss5969462948 Oct 14, 2022 (156)
106 EVA ss5979794552 Oct 14, 2022 (156)
107 1000Genomes NC_000006.11 - 90698274 Oct 12, 2018 (152)
108 1000Genomes_30x NC_000006.12 - 89988555 Oct 14, 2022 (156)
109 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 90698274 Oct 12, 2018 (152)
110 Genome-wide autozygosity in Daghestan NC_000006.10 - 90754995 Apr 26, 2020 (154)
111 Genetic variation in the Estonian population NC_000006.11 - 90698274 Oct 12, 2018 (152)
112 Genographic Project NC_000006.12 - 89988555 Oct 14, 2022 (156)
113 The Danish reference pan genome NC_000006.11 - 90698274 Apr 26, 2020 (154)
114 gnomAD - Genomes NC_000006.12 - 89988555 Apr 26, 2021 (155)
115 Genome of the Netherlands Release 5 NC_000006.11 - 90698274 Apr 26, 2020 (154)
116 HGDP-CEPH-db Supplement 1 NC_000006.10 - 90754995 Apr 26, 2020 (154)
117 HapMap NC_000006.12 - 89988555 Apr 26, 2020 (154)
118 KOREAN population from KRGDB NC_000006.11 - 90698274 Apr 26, 2020 (154)
119 Korean Genome Project NC_000006.12 - 89988555 Apr 26, 2020 (154)
120 Northern Sweden NC_000006.11 - 90698274 Jul 13, 2019 (153)
121 The PAGE Study NC_000006.12 - 89988555 Jul 13, 2019 (153)
122 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 90698274 Apr 26, 2021 (155)
123 CNV burdens in cranial meningiomas NC_000006.11 - 90698274 Apr 26, 2021 (155)
124 Qatari NC_000006.11 - 90698274 Apr 26, 2020 (154)
125 SGDP_PRJ NC_000006.11 - 90698274 Apr 26, 2020 (154)
126 Siberian NC_000006.11 - 90698274 Apr 26, 2020 (154)
127 8.3KJPN NC_000006.11 - 90698274 Apr 26, 2021 (155)
128 14KJPN NC_000006.12 - 89988555 Oct 14, 2022 (156)
129 TopMed NC_000006.12 - 89988555 Apr 26, 2021 (155)
130 UK 10K study - Twins NC_000006.11 - 90698274 Oct 12, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000006.11 - 90698274 Jul 13, 2019 (153)
132 ALFA NC_000006.12 - 89988555 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)
rs57463002 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639322336, ss3639687536 NC_000006.9:90754994:C:T NC_000006.12:89988554:C:T (self)
437519, 519870, ss93514713, ss207437253, ss278916724, ss293661326, ss485301915, ss825375803, ss1397463002, ss1592773017, ss1712880956, ss3643583623, ss3847841978 NC_000006.10:90754994:C:T NC_000006.12:89988554:C:T (self)
33046054, 18405843, 13144941, 7952435, 8201909, 19227940, 7033874, 462680, 122176, 8518823, 17170318, 4590892, 36699428, 18405843, 4090900, ss233580240, ss240614861, ss484219728, ss536406398, ss559363905, ss653365611, ss780571739, ss782555878, ss832720456, ss836064233, ss983220510, ss1073822789, ss1321217662, ss1430816264, ss1581787496, ss1616131043, ss1659125076, ss1804554574, ss1926476893, ss1946185605, ss1958932144, ss2023882191, ss2152074538, ss2634480829, ss2634480830, ss2707693508, ss2711084015, ss2842067441, ss2999524762, ss3022645017, ss3347107346, ss3625907367, ss3629600358, ss3632395749, ss3638643511, ss3642503129, ss3644918695, ss3653162835, ss3667406693, ss3733749009, ss3744275049, ss3765346892, ss3830064577, ss3865153338, ss3912050546, ss3984572766, ss3985236753, ss4017287105, ss5178730121, ss5237402686, ss5315172734, ss5367321988, ss5624635658, ss5640958522, ss5842629750, ss5847299151, ss5848105538, ss5969462948, ss5979794552 NC_000006.11:90698273:C:T NC_000006.12:89988554:C:T (self)
43372277, 88673, 233201017, 3188953, 15944573, 529499, 51100459, 549825883, 4833107648, ss2286120966, ss3025735167, ss3648414492, ss3717748785, ss3726364759, ss3771308030, ss3808497785, ss3959566572, ss4712448325, ss5269412132, ss5314514889, ss5466945718, ss5555846342, ss5717263355, ss5807722615, ss5855468316, ss5884883085 NC_000006.12:89988554:C:T NC_000006.12:89988554:C:T (self)
ss18387105 NT_007299.12:28518446:C:T NC_000006.12:89988554:C:T (self)
ss66669439, ss66990077, ss67164906, ss68983639, ss70406529, ss70559627, ss71097498, ss75587945, ss85196366, ss105438778, ss121545605, ss144140051, ss153153228, ss159208035, ss170070854, ss171928747 NT_007299.13:28818107:C:T NC_000006.12:89988554:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs12204127
PMID Title Author Year Journal
26480920 Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. Sung YJ et al. 2016 International journal of obesity (2005)
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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