Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs922107

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:89557237 (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=0.495670 (131199/264690, TOPMED)
A=0.464349 (110555/238086, ALFA)
A=0.488539 (68162/139522, GnomAD) (+ 20 more)
G=0.45715 (35973/78690, PAGE_STUDY)
G=0.23963 (6771/28256, 14KJPN)
G=0.24123 (4043/16760, 8.3KJPN)
G=0.4536 (2905/6404, 1000G_30x)
G=0.4493 (2250/5008, 1000G)
A=0.4203 (1883/4480, Estonian)
A=0.4650 (1792/3854, ALSPAC)
A=0.4528 (1679/3708, TWINSUK)
G=0.2358 (691/2930, KOREAN)
G=0.4191 (793/1892, HapMap)
G=0.2151 (394/1832, Korea1K)
A=0.485 (484/998, GoNL)
G=0.208 (162/778, PRJEB37584)
G=0.492 (295/600, NorthernSweden)
A=0.313 (119/380, SGDP_PRJ)
A=0.500 (108/216, Qatari)
G=0.500 (108/216, Qatari)
G=0.45 (18/40, GENOME_DK)
G=0.42 (16/38, Ancient Sardinia)
A=0.32 (11/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LRRC8B : 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 243120 A=0.464705 G=0.535295, T=0.000000
European Sub 215376 A=0.453890 G=0.546110, T=0.000000
African Sub 7464 A=0.5713 G=0.4287, T=0.0000
African Others Sub 284 A=0.616 G=0.384, T=0.000
African American Sub 7180 A=0.5695 G=0.4305, T=0.0000
Asian Sub 3834 A=0.7360 G=0.2640, T=0.0000
East Asian Sub 3106 A=0.7817 G=0.2183, T=0.0000
Other Asian Sub 728 A=0.541 G=0.459, T=0.000
Latin American 1 Sub 922 A=0.521 G=0.479, T=0.000
Latin American 2 Sub 6196 A=0.4976 G=0.5024, T=0.0000
South Asian Sub 294 A=0.520 G=0.480, T=0.000
Other Sub 9034 A=0.4893 G=0.5107, T=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 A=0.495670 G=0.504330
Allele Frequency Aggregator Total Global 238086 A=0.464349 G=0.535651, T=0.000000
Allele Frequency Aggregator European Sub 212282 A=0.453896 G=0.546104, T=0.000000
Allele Frequency Aggregator Other Sub 8234 A=0.4883 G=0.5117, T=0.0000
Allele Frequency Aggregator African Sub 6324 A=0.5759 G=0.4241, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6196 A=0.4976 G=0.5024, T=0.0000
Allele Frequency Aggregator Asian Sub 3834 A=0.7360 G=0.2640, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 922 A=0.521 G=0.479, T=0.000
Allele Frequency Aggregator South Asian Sub 294 A=0.520 G=0.480, T=0.000
gnomAD - Genomes Global Study-wide 139522 A=0.488539 G=0.511461
gnomAD - Genomes European Sub 75556 A=0.45910 G=0.54090
gnomAD - Genomes African Sub 41786 A=0.52618 G=0.47382
gnomAD - Genomes American Sub 13598 A=0.48228 G=0.51772
gnomAD - Genomes Ashkenazi Jewish Sub 3314 A=0.4270 G=0.5730
gnomAD - Genomes East Asian Sub 3126 A=0.7940 G=0.2060
gnomAD - Genomes Other Sub 2142 A=0.4818 G=0.5182
The PAGE Study Global Study-wide 78690 A=0.54285 G=0.45715
The PAGE Study AfricanAmerican Sub 32508 A=0.52609 G=0.47391
The PAGE Study Mexican Sub 10806 A=0.50907 G=0.49093
The PAGE Study Asian Sub 8318 A=0.7541 G=0.2459
The PAGE Study PuertoRican Sub 7918 A=0.4967 G=0.5033
The PAGE Study NativeHawaiian Sub 4534 A=0.6705 G=0.3295
The PAGE Study Cuban Sub 4230 A=0.4546 G=0.5454
The PAGE Study Dominican Sub 3828 A=0.4707 G=0.5293
The PAGE Study CentralAmerican Sub 2450 A=0.5012 G=0.4988
The PAGE Study SouthAmerican Sub 1982 A=0.4627 G=0.5373
The PAGE Study NativeAmerican Sub 1260 A=0.5048 G=0.4952
The PAGE Study SouthAsian Sub 856 A=0.423 G=0.577
14KJPN JAPANESE Study-wide 28256 A=0.76037 G=0.23963
8.3KJPN JAPANESE Study-wide 16760 A=0.75877 G=0.24123
1000Genomes_30x Global Study-wide 6404 A=0.5464 G=0.4536
1000Genomes_30x African Sub 1786 A=0.5594 G=0.4406
1000Genomes_30x Europe Sub 1266 A=0.4779 G=0.5221
1000Genomes_30x South Asian Sub 1202 A=0.4060 G=0.5940
1000Genomes_30x East Asian Sub 1170 A=0.7906 G=0.2094
1000Genomes_30x American Sub 980 A=0.492 G=0.508
1000Genomes Global Study-wide 5008 A=0.5507 G=0.4493
1000Genomes African Sub 1322 A=0.5582 G=0.4418
1000Genomes East Asian Sub 1008 A=0.7986 G=0.2014
1000Genomes Europe Sub 1006 A=0.4771 G=0.5229
1000Genomes South Asian Sub 978 A=0.412 G=0.588
1000Genomes American Sub 694 A=0.478 G=0.522
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.4203 G=0.5797
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.4650 G=0.5350
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.4528 G=0.5472
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.7642 G=0.2358, T=0.0000
HapMap Global Study-wide 1892 A=0.5809 G=0.4191
HapMap American Sub 770 A=0.564 G=0.436
HapMap African Sub 692 A=0.561 G=0.439
HapMap Asian Sub 254 A=0.760 G=0.240
HapMap Europe Sub 176 A=0.477 G=0.523
Korean Genome Project KOREAN Study-wide 1832 A=0.7849 G=0.2151
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.485 G=0.515
CNV burdens in cranial meningiomas Global Study-wide 778 A=0.792 G=0.208
CNV burdens in cranial meningiomas CRM Sub 778 A=0.792 G=0.208
Northern Sweden ACPOP Study-wide 600 A=0.508 G=0.492
SGDP_PRJ Global Study-wide 380 A=0.313 G=0.687
Qatari Global Study-wide 216 A=0.500 G=0.500
The Danish reference pan genome Danish Study-wide 40 A=0.55 G=0.45
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 A=0.58 G=0.42
Siberian Global Study-wide 34 A=0.32 G=0.68
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 1 NC_000001.11:g.89557237A>G
GRCh38.p14 chr 1 NC_000001.11:g.89557237A>T
GRCh37.p13 chr 1 NC_000001.10:g.90022796A>G
GRCh37.p13 chr 1 NC_000001.10:g.90022796A>T
Gene: LRRC8B, leucine rich repeat containing 8 VRAC subunit B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LRRC8B transcript variant 2 NM_001134476.2:c.-241+726…

NM_001134476.2:c.-241+7266A>G

N/A Intron Variant
LRRC8B transcript variant 3 NM_001369817.2:c.-240-110…

NM_001369817.2:c.-240-11010A>G

N/A Intron Variant
LRRC8B transcript variant 4 NM_001369819.2:c.-240-110…

NM_001369819.2:c.-240-11010A>G

N/A Intron Variant
LRRC8B transcript variant 1 NM_015350.4:c.-566-1474A>G N/A Intron Variant
LRRC8B transcript variant X6 XM_005270703.6:c.-240-110…

XM_005270703.6:c.-240-11010A>G

N/A Intron Variant
LRRC8B transcript variant X1 XM_011541143.3:c.-241+726…

XM_011541143.3:c.-241+7266A>G

N/A Intron Variant
LRRC8B transcript variant X2 XM_011541144.3:c.-566-147…

XM_011541144.3:c.-566-1474A>G

N/A Intron Variant
LRRC8B transcript variant X3 XM_011541146.4:c.-241+726…

XM_011541146.4:c.-241+7266A>G

N/A Intron Variant
LRRC8B transcript variant X12 XM_011541148.3:c.-241+726…

XM_011541148.3:c.-241+7266A>G

N/A Intron Variant
LRRC8B transcript variant X11 XM_017000886.2:c.-240-110…

XM_017000886.2:c.-240-11010A>G

N/A Intron Variant
LRRC8B transcript variant X4 XM_047416595.1:c.-241+726…

XM_047416595.1:c.-241+7266A>G

N/A Intron Variant
LRRC8B transcript variant X5 XM_047416596.1:c.-240-110…

XM_047416596.1:c.-240-11010A>G

N/A Intron Variant
LRRC8B transcript variant X8 XM_047416598.1:c.-567+454…

XM_047416598.1:c.-567+454A>G

N/A Intron Variant
LRRC8B transcript variant X9 XM_047416599.1:c.-567+454…

XM_047416599.1:c.-567+454A>G

N/A Intron Variant
LRRC8B transcript variant X10 XM_047416600.1:c.-566-147…

XM_047416600.1:c.-566-1474A>G

N/A Intron Variant
LRRC8B transcript variant X13 XM_047416601.1:c.-241+726…

XM_047416601.1:c.-241+7266A>G

N/A Intron Variant
LRRC8B transcript variant X14 XM_047416603.1:c.-241+726…

XM_047416603.1:c.-241+7266A>G

N/A Intron Variant
LRRC8B transcript variant X15 XM_047416604.1:c.-240-110…

XM_047416604.1:c.-240-11010A>G

N/A Intron Variant
LRRC8B transcript variant X16 XM_047416605.1:c.-240-110…

XM_047416605.1:c.-240-11010A>G

N/A Intron Variant
LRRC8B transcript variant X17 XM_047416607.1:c.-240-110…

XM_047416607.1:c.-240-11010A>G

N/A Intron Variant
LRRC8B transcript variant X7 XM_047416597.1:c. N/A Genic Upstream Transcript 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 1 NC_000001.11:g.89557237= NC_000001.11:g.89557237A>G NC_000001.11:g.89557237A>T
GRCh37.p13 chr 1 NC_000001.10:g.90022796= NC_000001.10:g.90022796A>G NC_000001.10:g.90022796A>T
LRRC8B transcript variant 2 NM_001134476.1:c.-241+7266= NM_001134476.1:c.-241+7266A>G NM_001134476.1:c.-241+7266A>T
LRRC8B transcript variant 2 NM_001134476.2:c.-241+7266= NM_001134476.2:c.-241+7266A>G NM_001134476.2:c.-241+7266A>T
LRRC8B transcript variant 3 NM_001369817.2:c.-240-11010= NM_001369817.2:c.-240-11010A>G NM_001369817.2:c.-240-11010A>T
LRRC8B transcript variant 4 NM_001369819.2:c.-240-11010= NM_001369819.2:c.-240-11010A>G NM_001369819.2:c.-240-11010A>T
LRRC8B transcript variant 1 NM_015350.4:c.-566-1474= NM_015350.4:c.-566-1474A>G NM_015350.4:c.-566-1474A>T
LRRC8B transcript variant X1 XM_005270701.1:c.-240-11010= XM_005270701.1:c.-240-11010A>G XM_005270701.1:c.-240-11010A>T
LRRC8B transcript variant X2 XM_005270702.1:c.-240-11010= XM_005270702.1:c.-240-11010A>G XM_005270702.1:c.-240-11010A>T
LRRC8B transcript variant X3 XM_005270703.1:c.-240-11010= XM_005270703.1:c.-240-11010A>G XM_005270703.1:c.-240-11010A>T
LRRC8B transcript variant X6 XM_005270703.6:c.-240-11010= XM_005270703.6:c.-240-11010A>G XM_005270703.6:c.-240-11010A>T
LRRC8B transcript variant X4 XM_005270704.1:c.-240-11010= XM_005270704.1:c.-240-11010A>G XM_005270704.1:c.-240-11010A>T
LRRC8B transcript variant X1 XM_011541143.3:c.-241+7266= XM_011541143.3:c.-241+7266A>G XM_011541143.3:c.-241+7266A>T
LRRC8B transcript variant X2 XM_011541144.3:c.-566-1474= XM_011541144.3:c.-566-1474A>G XM_011541144.3:c.-566-1474A>T
LRRC8B transcript variant X3 XM_011541146.4:c.-241+7266= XM_011541146.4:c.-241+7266A>G XM_011541146.4:c.-241+7266A>T
LRRC8B transcript variant X12 XM_011541148.3:c.-241+7266= XM_011541148.3:c.-241+7266A>G XM_011541148.3:c.-241+7266A>T
LRRC8B transcript variant X11 XM_017000886.2:c.-240-11010= XM_017000886.2:c.-240-11010A>G XM_017000886.2:c.-240-11010A>T
LRRC8B transcript variant X4 XM_047416595.1:c.-241+7266= XM_047416595.1:c.-241+7266A>G XM_047416595.1:c.-241+7266A>T
LRRC8B transcript variant X5 XM_047416596.1:c.-240-11010= XM_047416596.1:c.-240-11010A>G XM_047416596.1:c.-240-11010A>T
LRRC8B transcript variant X8 XM_047416598.1:c.-567+454= XM_047416598.1:c.-567+454A>G XM_047416598.1:c.-567+454A>T
LRRC8B transcript variant X9 XM_047416599.1:c.-567+454= XM_047416599.1:c.-567+454A>G XM_047416599.1:c.-567+454A>T
LRRC8B transcript variant X10 XM_047416600.1:c.-566-1474= XM_047416600.1:c.-566-1474A>G XM_047416600.1:c.-566-1474A>T
LRRC8B transcript variant X13 XM_047416601.1:c.-241+7266= XM_047416601.1:c.-241+7266A>G XM_047416601.1:c.-241+7266A>T
LRRC8B transcript variant X14 XM_047416603.1:c.-241+7266= XM_047416603.1:c.-241+7266A>G XM_047416603.1:c.-241+7266A>T
LRRC8B transcript variant X15 XM_047416604.1:c.-240-11010= XM_047416604.1:c.-240-11010A>G XM_047416604.1:c.-240-11010A>T
LRRC8B transcript variant X16 XM_047416605.1:c.-240-11010= XM_047416605.1:c.-240-11010A>G XM_047416605.1:c.-240-11010A>T
LRRC8B transcript variant X17 XM_047416607.1:c.-240-11010= XM_047416607.1:c.-240-11010A>G XM_047416607.1:c.-240-11010A>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#.

122 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1358814 Oct 05, 2000 (86)
2 WI_SSAHASNP ss6412157 Feb 20, 2003 (111)
3 WI_SSAHASNP ss11395518 Jul 11, 2003 (116)
4 SSAHASNP ss20567780 Apr 05, 2004 (121)
5 ABI ss43986246 Mar 14, 2006 (126)
6 ILLUMINA ss75215106 Dec 07, 2007 (129)
7 HGSV ss82474386 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss87613598 Mar 23, 2008 (129)
9 HUMANGENOME_JCVI ss97956605 Feb 03, 2009 (130)
10 1000GENOMES ss108399938 Jan 23, 2009 (130)
11 ILLUMINA-UK ss118877060 Feb 14, 2009 (130)
12 KRIBB_YJKIM ss119373723 Dec 01, 2009 (131)
13 ENSEMBL ss138033371 Dec 01, 2009 (131)
14 ENSEMBL ss138863221 Dec 01, 2009 (131)
15 ILLUMINA ss160968356 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss163637735 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss164747970 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss166823594 Jul 04, 2010 (132)
19 ILLUMINA ss174785841 Jul 04, 2010 (132)
20 BUSHMAN ss198754646 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss205321628 Jul 04, 2010 (132)
22 1000GENOMES ss210583102 Jul 14, 2010 (132)
23 1000GENOMES ss218514764 Jul 14, 2010 (132)
24 1000GENOMES ss230630526 Jul 14, 2010 (132)
25 1000GENOMES ss238304371 Jul 15, 2010 (132)
26 GMI ss275920455 May 04, 2012 (137)
27 GMI ss284093315 Apr 25, 2013 (138)
28 ILLUMINA ss481844224 May 04, 2012 (137)
29 ILLUMINA ss481876910 May 04, 2012 (137)
30 ILLUMINA ss482833803 Sep 08, 2015 (146)
31 ILLUMINA ss485716561 May 04, 2012 (137)
32 ILLUMINA ss537577284 Sep 08, 2015 (146)
33 TISHKOFF ss554408650 Apr 25, 2013 (138)
34 SSMP ss648207649 Apr 25, 2013 (138)
35 ILLUMINA ss779051455 Sep 08, 2015 (146)
36 ILLUMINA ss783303928 Sep 08, 2015 (146)
37 ILLUMINA ss784256124 Sep 08, 2015 (146)
38 ILLUMINA ss832565303 Sep 08, 2015 (146)
39 ILLUMINA ss834514421 Sep 08, 2015 (146)
40 EVA-GONL ss975412049 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1068077444 Aug 21, 2014 (142)
42 1000GENOMES ss1291841227 Aug 21, 2014 (142)
43 DDI ss1425891094 Apr 01, 2015 (144)
44 EVA_GENOME_DK ss1574220023 Apr 01, 2015 (144)
45 EVA_DECODE ss1584787375 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1600672880 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1643666913 Apr 01, 2015 (144)
48 EVA_SVP ss1712351887 Apr 01, 2015 (144)
49 ILLUMINA ss1751937796 Sep 08, 2015 (146)
50 HAMMER_LAB ss1794715326 Sep 08, 2015 (146)
51 WEILL_CORNELL_DGM ss1918613881 Feb 12, 2016 (147)
52 ILLUMINA ss1946001199 Feb 12, 2016 (147)
53 ILLUMINA ss1958291968 Feb 12, 2016 (147)
54 GENOMED ss1966804512 Jul 19, 2016 (147)
55 JJLAB ss2019828367 Sep 14, 2016 (149)
56 USC_VALOUEV ss2147845614 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2164462534 Dec 20, 2016 (150)
58 ILLUMINA ss2632545291 Nov 08, 2017 (151)
59 GRF ss2697770298 Nov 08, 2017 (151)
60 ILLUMINA ss2710676953 Nov 08, 2017 (151)
61 GNOMAD ss2757858193 Nov 08, 2017 (151)
62 SWEGEN ss2987196750 Nov 08, 2017 (151)
63 ILLUMINA ss3021108398 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3023676611 Nov 08, 2017 (151)
65 CSHL ss3343565106 Nov 08, 2017 (151)
66 ILLUMINA ss3625544658 Oct 11, 2018 (152)
67 ILLUMINA ss3626150419 Oct 11, 2018 (152)
68 ILLUMINA ss3630579911 Oct 11, 2018 (152)
69 ILLUMINA ss3632900386 Oct 11, 2018 (152)
70 ILLUMINA ss3633595282 Oct 11, 2018 (152)
71 ILLUMINA ss3634335701 Oct 11, 2018 (152)
72 ILLUMINA ss3635288953 Oct 11, 2018 (152)
73 ILLUMINA ss3636013049 Oct 11, 2018 (152)
74 ILLUMINA ss3637039403 Oct 11, 2018 (152)
75 ILLUMINA ss3637770945 Oct 11, 2018 (152)
76 ILLUMINA ss3640043061 Oct 11, 2018 (152)
77 ILLUMINA ss3642781599 Oct 11, 2018 (152)
78 ILLUMINA ss3644497159 Oct 11, 2018 (152)
79 URBANLAB ss3646715644 Oct 11, 2018 (152)
80 ILLUMINA ss3651437090 Oct 11, 2018 (152)
81 EGCUT_WGS ss3655274636 Jul 12, 2019 (153)
82 EVA_DECODE ss3687234375 Jul 12, 2019 (153)
83 ILLUMINA ss3725043215 Jul 12, 2019 (153)
84 ACPOP ss3727254766 Jul 12, 2019 (153)
85 ILLUMINA ss3744049984 Jul 12, 2019 (153)
86 ILLUMINA ss3744636665 Jul 12, 2019 (153)
87 EVA ss3746493121 Jul 12, 2019 (153)
88 PAGE_CC ss3770824104 Jul 12, 2019 (153)
89 ILLUMINA ss3772137938 Jul 12, 2019 (153)
90 PACBIO ss3783477103 Jul 12, 2019 (153)
91 PACBIO ss3789125132 Jul 12, 2019 (153)
92 PACBIO ss3793997926 Jul 12, 2019 (153)
93 KHV_HUMAN_GENOMES ss3799498214 Jul 12, 2019 (153)
94 EVA ss3826293660 Apr 25, 2020 (154)
95 EVA ss3836536784 Apr 25, 2020 (154)
96 EVA ss3841944351 Apr 25, 2020 (154)
97 SGDP_PRJ ss3849340988 Apr 25, 2020 (154)
98 KRGDB ss3894399993 Apr 25, 2020 (154)
99 KOGIC ss3944963209 Apr 25, 2020 (154)
100 EVA ss3984460734 Apr 25, 2021 (155)
101 EVA ss3984811115 Apr 25, 2021 (155)
102 EVA ss4016923638 Apr 25, 2021 (155)
103 TOPMED ss4458244509 Apr 25, 2021 (155)
104 TOMMO_GENOMICS ss5145005551 Apr 25, 2021 (155)
105 1000G_HIGH_COVERAGE ss5243089844 Oct 12, 2022 (156)
106 EVA ss5314633240 Oct 12, 2022 (156)
107 EVA ss5320245092 Oct 12, 2022 (156)
108 HUGCELL_USP ss5444065545 Oct 12, 2022 (156)
109 EVA ss5505940109 Oct 12, 2022 (156)
110 1000G_HIGH_COVERAGE ss5515808166 Oct 12, 2022 (156)
111 SANFORD_IMAGENETICS ss5624211512 Oct 12, 2022 (156)
112 SANFORD_IMAGENETICS ss5626001986 Oct 12, 2022 (156)
113 TOMMO_GENOMICS ss5670076257 Oct 12, 2022 (156)
114 EVA ss5799491303 Oct 12, 2022 (156)
115 YY_MCH ss5800803142 Oct 12, 2022 (156)
116 EVA ss5832279288 Oct 12, 2022 (156)
117 EVA ss5847162664 Oct 12, 2022 (156)
118 EVA ss5847546397 Oct 12, 2022 (156)
119 EVA ss5849006754 Oct 12, 2022 (156)
120 EVA ss5909206407 Oct 12, 2022 (156)
121 EVA ss5937854796 Oct 12, 2022 (156)
122 EVA ss5979281467 Oct 12, 2022 (156)
123 1000Genomes NC_000001.10 - 90022796 Oct 11, 2018 (152)
124 1000Genomes_30x NC_000001.11 - 89557237 Oct 12, 2022 (156)
125 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 90022796 Oct 11, 2018 (152)
126 Genetic variation in the Estonian population NC_000001.10 - 90022796 Oct 11, 2018 (152)
127 The Danish reference pan genome NC_000001.10 - 90022796 Apr 25, 2020 (154)
128 gnomAD - Genomes NC_000001.11 - 89557237 Apr 25, 2021 (155)
129 Genome of the Netherlands Release 5 NC_000001.10 - 90022796 Apr 25, 2020 (154)
130 HapMap NC_000001.11 - 89557237 Apr 25, 2020 (154)
131 KOREAN population from KRGDB NC_000001.10 - 90022796 Apr 25, 2020 (154)
132 Korean Genome Project NC_000001.11 - 89557237 Apr 25, 2020 (154)
133 Northern Sweden NC_000001.10 - 90022796 Jul 12, 2019 (153)
134 The PAGE Study NC_000001.11 - 89557237 Jul 12, 2019 (153)
135 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 90022796 Apr 25, 2021 (155)
136 CNV burdens in cranial meningiomas NC_000001.10 - 90022796 Apr 25, 2021 (155)
137 Qatari NC_000001.10 - 90022796 Apr 25, 2020 (154)
138 SGDP_PRJ NC_000001.10 - 90022796 Apr 25, 2020 (154)
139 Siberian NC_000001.10 - 90022796 Apr 25, 2020 (154)
140 8.3KJPN NC_000001.10 - 90022796 Apr 25, 2021 (155)
141 14KJPN NC_000001.11 - 89557237 Oct 12, 2022 (156)
142 TopMed NC_000001.11 - 89557237 Apr 25, 2021 (155)
143 UK 10K study - Twins NC_000001.10 - 90022796 Oct 11, 2018 (152)
144 ALFA NC_000001.11 - 89557237 Apr 25, 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)
rs57005098 May 23, 2008 (130)
rs386620994 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82474386 NC_000001.8:89734816:A:G NC_000001.11:89557236:A:G (self)
ss87613598, ss108399938, ss118877060, ss160968356, ss163637735, ss164747970, ss166823594, ss198754646, ss205321628, ss210583102, ss275920455, ss284093315, ss481844224, ss1584787375, ss1712351887, ss3642781599 NC_000001.9:89795383:A:G NC_000001.11:89557236:A:G (self)
2594804, 1425364, 1012884, 1601356, 617809, 1577387, 539631, 37042, 10045, 655811, 1357968, 361968, 2974858, 1425364, ss218514764, ss230630526, ss238304371, ss481876910, ss482833803, ss485716561, ss537577284, ss554408650, ss648207649, ss779051455, ss783303928, ss784256124, ss832565303, ss834514421, ss975412049, ss1068077444, ss1291841227, ss1425891094, ss1574220023, ss1600672880, ss1643666913, ss1751937796, ss1794715326, ss1918613881, ss1946001199, ss1958291968, ss1966804512, ss2019828367, ss2147845614, ss2632545291, ss2697770298, ss2710676953, ss2757858193, ss2987196750, ss3021108398, ss3343565106, ss3625544658, ss3626150419, ss3630579911, ss3632900386, ss3633595282, ss3634335701, ss3635288953, ss3636013049, ss3637039403, ss3637770945, ss3640043061, ss3644497159, ss3651437090, ss3655274636, ss3727254766, ss3744049984, ss3744636665, ss3746493121, ss3772137938, ss3783477103, ss3789125132, ss3793997926, ss3826293660, ss3836536784, ss3849340988, ss3894399993, ss3984460734, ss3984811115, ss4016923638, ss5145005551, ss5314633240, ss5320245092, ss5505940109, ss5624211512, ss5626001986, ss5799491303, ss5832279288, ss5847162664, ss5847546397, ss5937854796, ss5979281467 NC_000001.10:90022795:A:G NC_000001.11:89557236:A:G (self)
3334101, 18299968, 122503, 1341210, 45573, 3913361, 21850844, 10064907668, ss2164462534, ss3023676611, ss3646715644, ss3687234375, ss3725043215, ss3770824104, ss3799498214, ss3841944351, ss3944963209, ss4458244509, ss5243089844, ss5444065545, ss5515808166, ss5670076257, ss5800803142, ss5849006754, ss5909206407 NC_000001.11:89557236:A:G NC_000001.11:89557236:A:G (self)
ss11395518 NT_004686.15:1897424:A:G NC_000001.11:89557236:A:G (self)
ss20567780 NT_004686.16:1897424:A:G NC_000001.11:89557236:A:G (self)
ss1358814, ss6412157, ss43986246, ss75215106, ss97956605, ss119373723, ss138033371, ss138863221, ss174785841 NT_032977.9:59994713:A:G NC_000001.11:89557236:A:G (self)
1577387, ss3894399993 NC_000001.10:90022795:A:T NC_000001.11:89557236:A:T (self)
10064907668 NC_000001.11:89557236:A:T NC_000001.11:89557236: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.

1 citation for rs922107
PMID Title Author Year Journal
23648065 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. Low SK et al. 2013 Cancer science
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