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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.

rs132972

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:38166049 (GRCh38.p13) 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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.416057 (110126/264690, TOPMED)
T=0.453845 (109382/241012, ALFA)
T=0.425831 (59526/139788, GnomAD) (+ 18 more)
T=0.37682 (29584/78510, PAGE_STUDY)
T=0.32303 (5414/16760, 8.3KJPN)
T=0.3498 (1752/5008, 1000G)
T=0.4991 (2236/4480, Estonian)
T=0.4681 (1804/3854, ALSPAC)
T=0.4676 (1734/3708, TWINSUK)
T=0.3328 (975/2930, KOREAN)
T=0.3308 (606/1832, Korea1K)
T=0.4023 (457/1136, Daghestan)
T=0.473 (472/998, GoNL)
T=0.344 (246/716, PRJEB37584)
T=0.427 (256/600, NorthernSweden)
T=0.259 (126/486, SGDP_PRJ)
T=0.361 (119/330, HapMap)
T=0.347 (75/216, Qatari)
T=0.280 (60/214, Vietnamese)
T=0.34 (15/44, Siberian)
T=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PLA2G6 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 22 NC_000022.11:g.38166049T>A
GRCh38.p13 chr 22 NC_000022.11:g.38166049T>C
GRCh38.p13 chr 22 NC_000022.11:g.38166049T>G
GRCh37.p13 chr 22 NC_000022.10:g.38562056T>A
GRCh37.p13 chr 22 NC_000022.10:g.38562056T>C
GRCh37.p13 chr 22 NC_000022.10:g.38562056T>G
PLA2G6 RefSeqGene (LRG_1015) NG_007094.3:g.53730A>T
PLA2G6 RefSeqGene (LRG_1015) NG_007094.3:g.53730A>G
PLA2G6 RefSeqGene (LRG_1015) NG_007094.3:g.53730A>C
PLA2G6 RefSeqGene NG_007094.2:g.44642A>T
PLA2G6 RefSeqGene NG_007094.2:g.44642A>G
PLA2G6 RefSeqGene NG_007094.2:g.44642A>C
Gene: PLA2G6, phospholipase A2 group VI (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PLA2G6 transcript variant 2 NM_001004426.3:c.209+3169…

NM_001004426.3:c.209+3169A>T

N/A Intron Variant
PLA2G6 transcript variant 3 NM_001199562.3:c.209+3169…

NM_001199562.3:c.209+3169A>T

N/A Intron Variant
PLA2G6 transcript variant 4 NM_001349864.2:c.209+3169…

NM_001349864.2:c.209+3169A>T

N/A Intron Variant
PLA2G6 transcript variant 5 NM_001349865.2:c.209+3169…

NM_001349865.2:c.209+3169A>T

N/A Intron Variant
PLA2G6 transcript variant 6 NM_001349866.2:c.209+3169…

NM_001349866.2:c.209+3169A>T

N/A Intron Variant
PLA2G6 transcript variant 7 NM_001349867.2:c.-457+316…

NM_001349867.2:c.-457+3169A>T

N/A Intron Variant
PLA2G6 transcript variant 8 NM_001349868.2:c.-282+316…

NM_001349868.2:c.-282+3169A>T

N/A Intron Variant
PLA2G6 transcript variant 9 NM_001349869.2:c.-457+316…

NM_001349869.2:c.-457+3169A>T

N/A Intron Variant
PLA2G6 transcript variant 1 NM_003560.4:c.209+3169A>T 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 241012 T=0.453845 C=0.546155, G=0.000000
European Sub 214308 T=0.461336 C=0.538664, G=0.000000
African Sub 6372 T=0.3660 C=0.6340, G=0.0000
African Others Sub 240 T=0.329 C=0.671, G=0.000
African American Sub 6132 T=0.3674 C=0.6326, G=0.0000
Asian Sub 3848 T=0.3261 C=0.6739, G=0.0000
East Asian Sub 3116 T=0.3466 C=0.6534, G=0.0000
Other Asian Sub 732 T=0.239 C=0.761, G=0.000
Latin American 1 Sub 1028 T=0.4339 C=0.5661, G=0.0000
Latin American 2 Sub 6570 T=0.4525 C=0.5475, G=0.0000
South Asian Sub 368 T=0.280 C=0.720, G=0.000
Other Sub 8518 T=0.3997 C=0.6003, G=0.0000


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 T=0.416057 C=0.583943
gnomAD - Genomes Global Study-wide 139788 T=0.425831 C=0.574169
gnomAD - Genomes European Sub 75766 T=0.47148 C=0.52852
gnomAD - Genomes African Sub 41824 T=0.35398 C=0.64602
gnomAD - Genomes American Sub 13616 T=0.43412 C=0.56588
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.3796 C=0.6204
gnomAD - Genomes East Asian Sub 3116 T=0.2969 C=0.7031
gnomAD - Genomes Other Sub 2144 T=0.4207 C=0.5793
The PAGE Study Global Study-wide 78510 T=0.37682 C=0.62318
The PAGE Study AfricanAmerican Sub 32458 T=0.35353 C=0.64647
The PAGE Study Mexican Sub 10788 T=0.42900 C=0.57100
The PAGE Study Asian Sub 8300 T=0.3111 C=0.6889
The PAGE Study PuertoRican Sub 7890 T=0.4184 C=0.5816
The PAGE Study NativeHawaiian Sub 4518 T=0.2844 C=0.7156
The PAGE Study Cuban Sub 4220 T=0.4360 C=0.5640
The PAGE Study Dominican Sub 3816 T=0.4298 C=0.5702
The PAGE Study CentralAmerican Sub 2440 T=0.4803 C=0.5197
The PAGE Study SouthAmerican Sub 1980 T=0.4611 C=0.5389
The PAGE Study NativeAmerican Sub 1246 T=0.4093 C=0.5907
The PAGE Study SouthAsian Sub 854 T=0.279 C=0.721
8.3KJPN JAPANESE Study-wide 16760 T=0.32303 C=0.67697
1000Genomes Global Study-wide 5008 T=0.3498 C=0.6502
1000Genomes African Sub 1322 T=0.3230 C=0.6770
1000Genomes East Asian Sub 1008 T=0.2837 C=0.7163
1000Genomes Europe Sub 1006 T=0.4722 C=0.5278
1000Genomes South Asian Sub 978 T=0.253 C=0.747
1000Genomes American Sub 694 T=0.457 C=0.543
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4991 C=0.5009
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4681 C=0.5319
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4676 C=0.5324
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3328 A=0.0000, C=0.6672
Korean Genome Project KOREAN Study-wide 1832 T=0.3308 C=0.6692
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.4023 C=0.5977
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.455 C=0.545
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.312 C=0.688
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.320 C=0.680
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.426 C=0.574
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.27 C=0.73
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.42 C=0.58
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.473 C=0.527
CNV burdens in cranial meningiomas Global Study-wide 716 T=0.344 C=0.656
CNV burdens in cranial meningiomas CRM Sub 716 T=0.344 C=0.656
Northern Sweden ACPOP Study-wide 600 T=0.427 C=0.573
SGDP_PRJ Global Study-wide 486 T=0.259 C=0.741
HapMap Global Study-wide 330 T=0.361 C=0.639
HapMap African Sub 120 T=0.292 C=0.708
HapMap American Sub 120 T=0.442 C=0.558
HapMap Asian Sub 90 T=0.34 C=0.66
Qatari Global Study-wide 216 T=0.347 C=0.653
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.280 C=0.720
Siberian Global Study-wide 44 T=0.34 C=0.66
The Danish reference pan genome Danish Study-wide 40 T=0.38 C=0.62
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 T= A C G
GRCh38.p13 chr 22 NC_000022.11:g.38166049= NC_000022.11:g.38166049T>A NC_000022.11:g.38166049T>C NC_000022.11:g.38166049T>G
GRCh37.p13 chr 22 NC_000022.10:g.38562056= NC_000022.10:g.38562056T>A NC_000022.10:g.38562056T>C NC_000022.10:g.38562056T>G
PLA2G6 RefSeqGene (LRG_1015) NG_007094.3:g.53730= NG_007094.3:g.53730A>T NG_007094.3:g.53730A>G NG_007094.3:g.53730A>C
PLA2G6 RefSeqGene NG_007094.2:g.44642= NG_007094.2:g.44642A>T NG_007094.2:g.44642A>G NG_007094.2:g.44642A>C
PLA2G6 transcript variant 2 NM_001004426.1:c.209+3169= NM_001004426.1:c.209+3169A>T NM_001004426.1:c.209+3169A>G NM_001004426.1:c.209+3169A>C
PLA2G6 transcript variant 2 NM_001004426.3:c.209+3169= NM_001004426.3:c.209+3169A>T NM_001004426.3:c.209+3169A>G NM_001004426.3:c.209+3169A>C
PLA2G6 transcript variant 3 NM_001199562.1:c.209+3169= NM_001199562.1:c.209+3169A>T NM_001199562.1:c.209+3169A>G NM_001199562.1:c.209+3169A>C
PLA2G6 transcript variant 3 NM_001199562.3:c.209+3169= NM_001199562.3:c.209+3169A>T NM_001199562.3:c.209+3169A>G NM_001199562.3:c.209+3169A>C
PLA2G6 transcript variant 4 NM_001349864.2:c.209+3169= NM_001349864.2:c.209+3169A>T NM_001349864.2:c.209+3169A>G NM_001349864.2:c.209+3169A>C
PLA2G6 transcript variant 5 NM_001349865.2:c.209+3169= NM_001349865.2:c.209+3169A>T NM_001349865.2:c.209+3169A>G NM_001349865.2:c.209+3169A>C
PLA2G6 transcript variant 6 NM_001349866.2:c.209+3169= NM_001349866.2:c.209+3169A>T NM_001349866.2:c.209+3169A>G NM_001349866.2:c.209+3169A>C
PLA2G6 transcript variant 7 NM_001349867.2:c.-457+3169= NM_001349867.2:c.-457+3169A>T NM_001349867.2:c.-457+3169A>G NM_001349867.2:c.-457+3169A>C
PLA2G6 transcript variant 8 NM_001349868.2:c.-282+3169= NM_001349868.2:c.-282+3169A>T NM_001349868.2:c.-282+3169A>G NM_001349868.2:c.-282+3169A>C
PLA2G6 transcript variant 9 NM_001349869.2:c.-457+3169= NM_001349869.2:c.-457+3169A>T NM_001349869.2:c.-457+3169A>G NM_001349869.2:c.-457+3169A>C
PLA2G6 transcript variant 1 NM_003560.2:c.209+3169= NM_003560.2:c.209+3169A>T NM_003560.2:c.209+3169A>G NM_003560.2:c.209+3169A>C
PLA2G6 transcript variant 1 NM_003560.4:c.209+3169= NM_003560.4:c.209+3169A>T NM_003560.4:c.209+3169A>G NM_003560.4:c.209+3169A>C
PLA2G6 transcript variant X1 XM_005261764.1:c.209+3169= XM_005261764.1:c.209+3169A>T XM_005261764.1:c.209+3169A>G XM_005261764.1:c.209+3169A>C
PLA2G6 transcript variant X3 XM_005261765.1:c.209+3169= XM_005261765.1:c.209+3169A>T XM_005261765.1:c.209+3169A>G XM_005261765.1:c.209+3169A>C
PLA2G6 transcript variant X2 XM_005261766.1:c.209+3169= XM_005261766.1:c.209+3169A>T XM_005261766.1:c.209+3169A>G XM_005261766.1:c.209+3169A>C
PLA2G6 transcript variant X4 XM_005261767.1:c.209+3169= XM_005261767.1:c.209+3169A>T XM_005261767.1:c.209+3169A>G XM_005261767.1:c.209+3169A>C
PLA2G6 transcript variant X5 XM_005261768.1:c.209+3169= XM_005261768.1:c.209+3169A>T XM_005261768.1:c.209+3169A>G XM_005261768.1:c.209+3169A>C
PLA2G6 transcript variant X6 XM_005261769.1:c.209+3169= XM_005261769.1:c.209+3169A>T XM_005261769.1:c.209+3169A>G XM_005261769.1:c.209+3169A>C
PLA2G6 transcript variant X7 XM_005261770.1:c.-282+3169= XM_005261770.1:c.-282+3169A>T XM_005261770.1:c.-282+3169A>G XM_005261770.1:c.-282+3169A>C
PLA2G6 transcript variant X8 XM_005261771.1:c.209+3169= XM_005261771.1:c.209+3169A>T XM_005261771.1:c.209+3169A>G XM_005261771.1:c.209+3169A>C
PLA2G6 transcript variant X9 XM_005261772.1:c.209+3169= XM_005261772.1:c.209+3169A>T XM_005261772.1:c.209+3169A>G XM_005261772.1:c.209+3169A>C
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#.

103 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC ss140780 Jun 24, 2000 (78)
2 SC_SNP ss8008152 Apr 21, 2003 (114)
3 SC_SNP ss13359945 Dec 05, 2003 (119)
4 ABI ss44316371 Mar 14, 2006 (126)
5 HGSV ss78283085 Dec 06, 2007 (129)
6 KRIBB_YJKIM ss80750540 Dec 14, 2007 (130)
7 BCMHGSC_JDW ss91923813 Mar 24, 2008 (129)
8 1000GENOMES ss112653377 Jan 25, 2009 (130)
9 1000GENOMES ss114224123 Jan 25, 2009 (130)
10 ILLUMINA-UK ss117408524 Feb 14, 2009 (130)
11 ENSEMBL ss138356613 Dec 01, 2009 (131)
12 GMI ss157189408 Dec 01, 2009 (131)
13 ILLUMINA ss160329371 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss167964627 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss169284599 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss171986764 Jul 04, 2010 (132)
17 BUSHMAN ss204092335 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss208829811 Jul 04, 2010 (132)
19 1000GENOMES ss228687279 Jul 14, 2010 (132)
20 1000GENOMES ss238074433 Jul 15, 2010 (132)
21 1000GENOMES ss244191237 Jul 15, 2010 (132)
22 GMI ss283640611 May 04, 2012 (137)
23 GMI ss287571470 Apr 25, 2013 (138)
24 PJP ss292763582 May 09, 2011 (134)
25 ILLUMINA ss479905821 May 04, 2012 (137)
26 ILLUMINA ss479913783 May 04, 2012 (137)
27 ILLUMINA ss480534382 Sep 08, 2015 (146)
28 ILLUMINA ss484751177 May 04, 2012 (137)
29 ILLUMINA ss536845445 Sep 08, 2015 (146)
30 TISHKOFF ss566650869 Apr 25, 2013 (138)
31 SSMP ss662579980 Apr 25, 2013 (138)
32 ILLUMINA ss778799417 Sep 08, 2015 (146)
33 ILLUMINA ss782822317 Sep 08, 2015 (146)
34 ILLUMINA ss783787358 Sep 08, 2015 (146)
35 ILLUMINA ss832075708 Sep 08, 2015 (146)
36 ILLUMINA ss834259552 Sep 08, 2015 (146)
37 EVA-GONL ss995367222 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1082669835 Aug 21, 2014 (142)
39 1000GENOMES ss1367226435 Aug 21, 2014 (142)
40 HAMMER_LAB ss1397785864 Sep 08, 2015 (146)
41 DDI ss1429261224 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1579758781 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1640026781 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1683020814 Apr 01, 2015 (144)
45 EVA_DECODE ss1699438003 Apr 01, 2015 (144)
46 ILLUMINA ss1752421855 Sep 08, 2015 (146)
47 HAMMER_LAB ss1809795954 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1938934757 Feb 12, 2016 (147)
49 ILLUMINA ss1946592188 Feb 12, 2016 (147)
50 ILLUMINA ss1959981437 Feb 12, 2016 (147)
51 GENOMED ss1969275500 Jul 19, 2016 (147)
52 JJLAB ss2030239365 Sep 14, 2016 (149)
53 USC_VALOUEV ss2158858951 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2247456781 Dec 20, 2016 (150)
55 TOPMED ss2414424167 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2629616961 Nov 08, 2017 (151)
57 ILLUMINA ss2633880616 Nov 08, 2017 (151)
58 ILLUMINA ss2635112284 Nov 08, 2017 (151)
59 GRF ss2704611027 Nov 08, 2017 (151)
60 ILLUMINA ss2710958466 Nov 08, 2017 (151)
61 GNOMAD ss2974556865 Nov 08, 2017 (151)
62 AFFY ss2985855857 Nov 08, 2017 (151)
63 SWEGEN ss3019329255 Nov 08, 2017 (151)
64 ILLUMINA ss3022188238 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3028956875 Nov 08, 2017 (151)
66 CSHL ss3352845037 Nov 08, 2017 (151)
67 TOPMED ss3377567276 Nov 08, 2017 (151)
68 ILLUMINA ss3625803182 Oct 12, 2018 (152)
69 ILLUMINA ss3628538593 Oct 12, 2018 (152)
70 ILLUMINA ss3631831730 Oct 12, 2018 (152)
71 ILLUMINA ss3633273874 Oct 12, 2018 (152)
72 ILLUMINA ss3633989717 Oct 12, 2018 (152)
73 ILLUMINA ss3634868950 Oct 12, 2018 (152)
74 ILLUMINA ss3635674148 Oct 12, 2018 (152)
75 ILLUMINA ss3636564558 Oct 12, 2018 (152)
76 ILLUMINA ss3637426390 Oct 12, 2018 (152)
77 ILLUMINA ss3640576254 Oct 12, 2018 (152)
78 ILLUMINA ss3644801059 Oct 12, 2018 (152)
79 URBANLAB ss3651182750 Oct 12, 2018 (152)
80 ILLUMINA ss3652652071 Oct 12, 2018 (152)
81 EGCUT_WGS ss3685824539 Jul 13, 2019 (153)
82 EVA_DECODE ss3708232363 Jul 13, 2019 (153)
83 ILLUMINA ss3725970359 Jul 13, 2019 (153)
84 ACPOP ss3743947561 Jul 13, 2019 (153)
85 ILLUMINA ss3744207102 Jul 13, 2019 (153)
86 ILLUMINA ss3745168798 Jul 13, 2019 (153)
87 EVA ss3759402495 Jul 13, 2019 (153)
88 PAGE_CC ss3772092868 Jul 13, 2019 (153)
89 ILLUMINA ss3772664673 Jul 13, 2019 (153)
90 PACBIO ss3788831067 Jul 13, 2019 (153)
91 PACBIO ss3793696041 Jul 13, 2019 (153)
92 PACBIO ss3798582526 Jul 13, 2019 (153)
93 KHV_HUMAN_GENOMES ss3822564816 Jul 13, 2019 (153)
94 EVA ss3836000023 Apr 27, 2020 (154)
95 EVA ss3841628389 Apr 27, 2020 (154)
96 EVA ss3847143513 Apr 27, 2020 (154)
97 SGDP_PRJ ss3890579699 Apr 27, 2020 (154)
98 KRGDB ss3940981697 Apr 27, 2020 (154)
99 KOGIC ss3983673245 Apr 27, 2020 (154)
100 EVA ss3984760818 Apr 27, 2021 (155)
101 EVA ss4017881741 Apr 27, 2021 (155)
102 TOPMED ss5109745893 Apr 27, 2021 (155)
103 TOMMO_GENOMICS ss5232698376 Apr 27, 2021 (155)
104 1000Genomes NC_000022.10 - 38562056 Oct 12, 2018 (152)
105 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 38562056 Oct 12, 2018 (152)
106 Genome-wide autozygosity in Daghestan NC_000022.9 - 36892002 Apr 27, 2020 (154)
107 Genetic variation in the Estonian population NC_000022.10 - 38562056 Oct 12, 2018 (152)
108 The Danish reference pan genome NC_000022.10 - 38562056 Apr 27, 2020 (154)
109 gnomAD - Genomes NC_000022.11 - 38166049 Apr 27, 2021 (155)
110 Genome of the Netherlands Release 5 NC_000022.10 - 38562056 Apr 27, 2020 (154)
111 HapMap NC_000022.11 - 38166049 Apr 27, 2020 (154)
112 KOREAN population from KRGDB NC_000022.10 - 38562056 Apr 27, 2020 (154)
113 Korean Genome Project NC_000022.11 - 38166049 Apr 27, 2020 (154)
114 Northern Sweden NC_000022.10 - 38562056 Jul 13, 2019 (153)
115 The PAGE Study NC_000022.11 - 38166049 Jul 13, 2019 (153)
116 CNV burdens in cranial meningiomas NC_000022.10 - 38562056 Apr 27, 2021 (155)
117 Qatari NC_000022.10 - 38562056 Apr 27, 2020 (154)
118 SGDP_PRJ NC_000022.10 - 38562056 Apr 27, 2020 (154)
119 Siberian NC_000022.10 - 38562056 Apr 27, 2020 (154)
120 8.3KJPN NC_000022.10 - 38562056 Apr 27, 2021 (155)
121 TopMed NC_000022.11 - 38166049 Apr 27, 2021 (155)
122 UK 10K study - Twins NC_000022.10 - 38562056 Oct 12, 2018 (152)
123 A Vietnamese Genetic Variation Database NC_000022.10 - 38562056 Jul 13, 2019 (153)
124 ALFA NC_000022.11 - 38166049 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)
rs56777212 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
48159091, ss3940981697 NC_000022.10:38562055:T:A NC_000022.11:38166048:T:A (self)
ss78283085 NC_000022.8:36886555:T:C NC_000022.11:38166048:T:C (self)
299817, ss91923813, ss112653377, ss114224123, ss117408524, ss167964627, ss169284599, ss171986764, ss204092335, ss208829811, ss283640611, ss287571470, ss292763582, ss479905821, ss1397785864, ss1699438003, ss2635112284 NC_000022.9:36892001:T:C NC_000022.11:38166048:T:C (self)
80780691, 44684418, 31562787, 5923720, 19910896, 48159091, 17232426, 310404, 20976679, 42596679, 11375305, 90667683, 44684418, 9857659, ss228687279, ss238074433, ss244191237, ss479913783, ss480534382, ss484751177, ss536845445, ss566650869, ss662579980, ss778799417, ss782822317, ss783787358, ss832075708, ss834259552, ss995367222, ss1082669835, ss1367226435, ss1429261224, ss1579758781, ss1640026781, ss1683020814, ss1752421855, ss1809795954, ss1938934757, ss1946592188, ss1959981437, ss1969275500, ss2030239365, ss2158858951, ss2414424167, ss2629616961, ss2633880616, ss2704611027, ss2710958466, ss2974556865, ss2985855857, ss3019329255, ss3022188238, ss3352845037, ss3625803182, ss3628538593, ss3631831730, ss3633273874, ss3633989717, ss3634868950, ss3635674148, ss3636564558, ss3637426390, ss3640576254, ss3644801059, ss3652652071, ss3685824539, ss3743947561, ss3744207102, ss3745168798, ss3759402495, ss3772664673, ss3788831067, ss3793696041, ss3798582526, ss3836000023, ss3841628389, ss3890579699, ss3940981697, ss3984760818, ss4017881741, ss5232698376 NC_000022.10:38562055:T:C NC_000022.11:38166048:T:C (self)
570411465, 2258942, 40051246, 1314337, 240400734, 384854840, 3924585936, ss2247456781, ss3028956875, ss3377567276, ss3651182750, ss3708232363, ss3725970359, ss3772092868, ss3822564816, ss3847143513, ss3983673245, ss5109745893 NC_000022.11:38166048:T:C NC_000022.11:38166048:T:C (self)
ss13359945 NT_011520.9:17871109:T:C NC_000022.11:38166048:T:C (self)
ss140780, ss8008152, ss44316371, ss80750540, ss138356613, ss157189408, ss160329371 NT_011520.12:17952624:T:C NC_000022.11:38166048:T:C (self)
3924585936 NC_000022.11:38166048:T:G NC_000022.11:38166048:T:G
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 rs132972

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.post596+ae089ad