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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.

rs9965837

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:79356485 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.488198 (129221/264690, TOPMED)
T=0.492958 (69018/140008, GnomAD)
C=0.48589 (22658/46632, ALFA) (+ 17 more)
T=0.31970 (9034/28258, 14KJPN)
T=0.32023 (5367/16760, 8.3KJPN)
T=0.4539 (2907/6404, 1000G_30x)
T=0.4523 (2265/5008, 1000G)
T=0.4984 (2233/4480, Estonian)
C=0.4626 (1783/3854, ALSPAC)
C=0.4631 (1717/3708, TWINSUK)
T=0.2962 (868/2930, KOREAN)
T=0.3084 (565/1832, Korea1K)
C=0.464 (463/998, GoNL)
C=0.433 (260/600, NorthernSweden)
T=0.305 (139/456, SGDP_PRJ)
T=0.448 (147/328, HapMap)
T=0.454 (98/216, Qatari)
T=0.278 (60/216, Vietnamese)
T=0.38 (20/52, Siberian)
C=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP9B : Intron Variant
Publications
0 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 46632 T=0.51411 C=0.48589
European Sub 32392 T=0.53041 C=0.46959
African Sub 4938 T=0.4166 C=0.5834
African Others Sub 180 T=0.394 C=0.606
African American Sub 4758 T=0.4174 C=0.5826
Asian Sub 438 T=0.333 C=0.667
East Asian Sub 372 T=0.312 C=0.688
Other Asian Sub 66 T=0.45 C=0.55
Latin American 1 Sub 574 T=0.537 C=0.463
Latin American 2 Sub 4882 T=0.5107 C=0.4893
South Asian Sub 162 T=0.500 C=0.500
Other Sub 3246 T=0.5262 C=0.4738


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=0.488198 C=0.511802
gnomAD - Genomes Global Study-wide 140008 T=0.492958 C=0.507042
gnomAD - Genomes European Sub 75854 T=0.53445 C=0.46555
gnomAD - Genomes African Sub 41916 T=0.42502 C=0.57498
gnomAD - Genomes American Sub 13648 T=0.51744 C=0.48256
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.4904 C=0.5096
gnomAD - Genomes East Asian Sub 3122 T=0.2867 C=0.7133
gnomAD - Genomes Other Sub 2148 T=0.5019 C=0.4981
Allele Frequency Aggregator Total Global 46632 T=0.51411 C=0.48589
Allele Frequency Aggregator European Sub 32392 T=0.53041 C=0.46959
Allele Frequency Aggregator African Sub 4938 T=0.4166 C=0.5834
Allele Frequency Aggregator Latin American 2 Sub 4882 T=0.5107 C=0.4893
Allele Frequency Aggregator Other Sub 3246 T=0.5262 C=0.4738
Allele Frequency Aggregator Latin American 1 Sub 574 T=0.537 C=0.463
Allele Frequency Aggregator Asian Sub 438 T=0.333 C=0.667
Allele Frequency Aggregator South Asian Sub 162 T=0.500 C=0.500
14KJPN JAPANESE Study-wide 28258 T=0.31970 C=0.68030
8.3KJPN JAPANESE Study-wide 16760 T=0.32023 C=0.67977
1000Genomes_30x Global Study-wide 6404 T=0.4539 C=0.5461
1000Genomes_30x African Sub 1786 T=0.3936 C=0.6064
1000Genomes_30x Europe Sub 1266 T=0.5837 C=0.4163
1000Genomes_30x South Asian Sub 1202 T=0.4359 C=0.5641
1000Genomes_30x East Asian Sub 1170 T=0.3590 C=0.6410
1000Genomes_30x American Sub 980 T=0.532 C=0.468
1000Genomes Global Study-wide 5008 T=0.4523 C=0.5477
1000Genomes African Sub 1322 T=0.3956 C=0.6044
1000Genomes East Asian Sub 1008 T=0.3522 C=0.6478
1000Genomes Europe Sub 1006 T=0.5755 C=0.4245
1000Genomes South Asian Sub 978 T=0.451 C=0.549
1000Genomes American Sub 694 T=0.529 C=0.471
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4984 C=0.5016
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5374 C=0.4626
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5369 C=0.4631
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2962 C=0.7038
Korean Genome Project KOREAN Study-wide 1832 T=0.3084 C=0.6916
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.536 C=0.464
Northern Sweden ACPOP Study-wide 600 T=0.567 C=0.433
SGDP_PRJ Global Study-wide 456 T=0.305 C=0.695
HapMap Global Study-wide 328 T=0.448 C=0.552
HapMap African Sub 120 T=0.367 C=0.633
HapMap American Sub 120 T=0.592 C=0.408
HapMap Asian Sub 88 T=0.36 C=0.64
Qatari Global Study-wide 216 T=0.454 C=0.546
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.278 C=0.722
Siberian Global Study-wide 52 T=0.38 C=0.62
The Danish reference pan genome Danish Study-wide 40 T=0.62 C=0.38
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 18 NC_000018.10:g.79356485T>C
GRCh37.p13 chr 18 NC_000018.9:g.77116485T>C
Gene: ATP9B, ATPase phospholipid transporting 9B (putative) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP9B transcript variant 2 NM_001306085.2:c.2904-286…

NM_001306085.2:c.2904-2869T>C

N/A Intron Variant
ATP9B transcript variant 1 NM_198531.5:c.2904-2869T>C N/A Intron Variant
ATP9B transcript variant 3 NR_148360.2:n. N/A Intron Variant
ATP9B transcript variant X1 XM_011525963.3:c.2985-286…

XM_011525963.3:c.2985-2869T>C

N/A Intron Variant
ATP9B transcript variant X2 XM_011525964.3:c.2982-286…

XM_011525964.3:c.2982-2869T>C

N/A Intron Variant
ATP9B transcript variant X10 XM_011525966.3:c.2865-286…

XM_011525966.3:c.2865-2869T>C

N/A Intron Variant
ATP9B transcript variant X28 XM_011525971.3:c.2382-286…

XM_011525971.3:c.2382-2869T>C

N/A Intron Variant
ATP9B transcript variant X29 XM_011525972.3:c.2235-286…

XM_011525972.3:c.2235-2869T>C

N/A Intron Variant
ATP9B transcript variant X30 XM_011525973.3:c.2112-286…

XM_011525973.3:c.2112-2869T>C

N/A Intron Variant
ATP9B transcript variant X31 XM_011525974.3:c.2064-286…

XM_011525974.3:c.2064-2869T>C

N/A Intron Variant
ATP9B transcript variant X3 XM_017025726.2:c.2985-286…

XM_017025726.2:c.2985-2869T>C

N/A Intron Variant
ATP9B transcript variant X4 XM_017025727.2:c.2985-286…

XM_017025727.2:c.2985-2869T>C

N/A Intron Variant
ATP9B transcript variant X6 XM_017025728.3:c.2907-286…

XM_017025728.3:c.2907-2869T>C

N/A Intron Variant
ATP9B transcript variant X7 XM_017025729.2:c.2985-286…

XM_017025729.2:c.2985-2869T>C

N/A Intron Variant
ATP9B transcript variant X8 XM_017025730.2:c.2907-286…

XM_017025730.2:c.2907-2869T>C

N/A Intron Variant
ATP9B transcript variant X11 XM_017025731.2:c.2920-286…

XM_017025731.2:c.2920-2869T>C

N/A Intron Variant
ATP9B transcript variant X13 XM_017025732.2:c.2842-286…

XM_017025732.2:c.2842-2869T>C

N/A Intron Variant
ATP9B transcript variant X16 XM_017025733.2:c.2842-286…

XM_017025733.2:c.2842-2869T>C

N/A Intron Variant
ATP9B transcript variant X18 XM_017025734.2:c.2920-286…

XM_017025734.2:c.2920-2869T>C

N/A Intron Variant
ATP9B transcript variant X19 XM_017025735.3:c.2920-286…

XM_017025735.3:c.2920-2869T>C

N/A Intron Variant
ATP9B transcript variant X21 XM_017025736.3:c.2985-286…

XM_017025736.3:c.2985-2869T>C

N/A Intron Variant
ATP9B transcript variant X24 XM_017025737.2:c.2985-286…

XM_017025737.2:c.2985-2869T>C

N/A Intron Variant
ATP9B transcript variant X5 XM_047437489.1:c.2982-286…

XM_047437489.1:c.2982-2869T>C

N/A Intron Variant
ATP9B transcript variant X9 XM_047437490.1:c.2865-286…

XM_047437490.1:c.2865-2869T>C

N/A Intron Variant
ATP9B transcript variant X12 XM_047437491.1:c.2787-286…

XM_047437491.1:c.2787-2869T>C

N/A Intron Variant
ATP9B transcript variant X14 XM_047437492.1:c.2839-286…

XM_047437492.1:c.2839-2869T>C

N/A Intron Variant
ATP9B transcript variant X15 XM_047437493.1:c.2787-286…

XM_047437493.1:c.2787-2869T>C

N/A Intron Variant
ATP9B transcript variant X17 XM_047437494.1:c.2839-286…

XM_047437494.1:c.2839-2869T>C

N/A Intron Variant
ATP9B transcript variant X20 XM_047437495.1:c.2985-286…

XM_047437495.1:c.2985-2869T>C

N/A Intron Variant
ATP9B transcript variant X22 XM_047437496.1:c.2920-286…

XM_047437496.1:c.2920-2869T>C

N/A Intron Variant
ATP9B transcript variant X23 XM_047437497.1:c.2839-286…

XM_047437497.1:c.2839-2869T>C

N/A Intron Variant
ATP9B transcript variant X25 XM_047437498.1:c.2982-286…

XM_047437498.1:c.2982-2869T>C

N/A Intron Variant
ATP9B transcript variant X26 XM_047437499.1:c.2904-286…

XM_047437499.1:c.2904-2869T>C

N/A Intron Variant
ATP9B transcript variant X27 XM_047437500.1:c.2904-286…

XM_047437500.1:c.2904-2869T>C

N/A Intron Variant
ATP9B transcript variant X32 XM_047437501.1:c.1800-286…

XM_047437501.1:c.1800-2869T>C

N/A Intron Variant
ATP9B transcript variant X33 XM_047437502.1:c.1695-286…

XM_047437502.1:c.1695-2869T>C

N/A Intron Variant
ATP9B transcript variant X34 XM_017025742.2:c. N/A Genic Downstream 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 T= C
GRCh38.p14 chr 18 NC_000018.10:g.79356485= NC_000018.10:g.79356485T>C
GRCh37.p13 chr 18 NC_000018.9:g.77116485= NC_000018.9:g.77116485T>C
ATP9B transcript variant 2 NM_001306085.2:c.2904-2869= NM_001306085.2:c.2904-2869T>C
ATP9B transcript NM_198531.3:c.2904-2869= NM_198531.3:c.2904-2869T>C
ATP9B transcript variant 1 NM_198531.5:c.2904-2869= NM_198531.5:c.2904-2869T>C
ATP9B transcript variant X1 XM_005266690.1:c.2904-2869= XM_005266690.1:c.2904-2869T>C
ATP9B transcript variant X10 XM_005266691.1:c.2904-2869= XM_005266691.1:c.2904-2869T>C
ATP9B transcript variant X3 XM_005266692.1:c.2904-2869= XM_005266692.1:c.2904-2869T>C
ATP9B transcript variant X4 XM_005266693.1:c.2839-2869= XM_005266693.1:c.2839-2869T>C
ATP9B transcript variant X5 XM_005266694.1:c.2904-2869= XM_005266694.1:c.2904-2869T>C
ATP9B transcript variant X6 XM_005266695.1:c.2904-2869= XM_005266695.1:c.2904-2869T>C
ATP9B transcript variant X7 XM_005266696.1:c.1824-2869= XM_005266696.1:c.1824-2869T>C
ATP9B transcript variant X1 XM_011525963.3:c.2985-2869= XM_011525963.3:c.2985-2869T>C
ATP9B transcript variant X2 XM_011525964.3:c.2982-2869= XM_011525964.3:c.2982-2869T>C
ATP9B transcript variant X10 XM_011525966.3:c.2865-2869= XM_011525966.3:c.2865-2869T>C
ATP9B transcript variant X28 XM_011525971.3:c.2382-2869= XM_011525971.3:c.2382-2869T>C
ATP9B transcript variant X29 XM_011525972.3:c.2235-2869= XM_011525972.3:c.2235-2869T>C
ATP9B transcript variant X30 XM_011525973.3:c.2112-2869= XM_011525973.3:c.2112-2869T>C
ATP9B transcript variant X31 XM_011525974.3:c.2064-2869= XM_011525974.3:c.2064-2869T>C
ATP9B transcript variant X3 XM_017025726.2:c.2985-2869= XM_017025726.2:c.2985-2869T>C
ATP9B transcript variant X4 XM_017025727.2:c.2985-2869= XM_017025727.2:c.2985-2869T>C
ATP9B transcript variant X6 XM_017025728.3:c.2907-2869= XM_017025728.3:c.2907-2869T>C
ATP9B transcript variant X7 XM_017025729.2:c.2985-2869= XM_017025729.2:c.2985-2869T>C
ATP9B transcript variant X8 XM_017025730.2:c.2907-2869= XM_017025730.2:c.2907-2869T>C
ATP9B transcript variant X11 XM_017025731.2:c.2920-2869= XM_017025731.2:c.2920-2869T>C
ATP9B transcript variant X13 XM_017025732.2:c.2842-2869= XM_017025732.2:c.2842-2869T>C
ATP9B transcript variant X16 XM_017025733.2:c.2842-2869= XM_017025733.2:c.2842-2869T>C
ATP9B transcript variant X18 XM_017025734.2:c.2920-2869= XM_017025734.2:c.2920-2869T>C
ATP9B transcript variant X19 XM_017025735.3:c.2920-2869= XM_017025735.3:c.2920-2869T>C
ATP9B transcript variant X21 XM_017025736.3:c.2985-2869= XM_017025736.3:c.2985-2869T>C
ATP9B transcript variant X24 XM_017025737.2:c.2985-2869= XM_017025737.2:c.2985-2869T>C
ATP9B transcript variant X5 XM_047437489.1:c.2982-2869= XM_047437489.1:c.2982-2869T>C
ATP9B transcript variant X9 XM_047437490.1:c.2865-2869= XM_047437490.1:c.2865-2869T>C
ATP9B transcript variant X12 XM_047437491.1:c.2787-2869= XM_047437491.1:c.2787-2869T>C
ATP9B transcript variant X14 XM_047437492.1:c.2839-2869= XM_047437492.1:c.2839-2869T>C
ATP9B transcript variant X15 XM_047437493.1:c.2787-2869= XM_047437493.1:c.2787-2869T>C
ATP9B transcript variant X17 XM_047437494.1:c.2839-2869= XM_047437494.1:c.2839-2869T>C
ATP9B transcript variant X20 XM_047437495.1:c.2985-2869= XM_047437495.1:c.2985-2869T>C
ATP9B transcript variant X22 XM_047437496.1:c.2920-2869= XM_047437496.1:c.2920-2869T>C
ATP9B transcript variant X23 XM_047437497.1:c.2839-2869= XM_047437497.1:c.2839-2869T>C
ATP9B transcript variant X25 XM_047437498.1:c.2982-2869= XM_047437498.1:c.2982-2869T>C
ATP9B transcript variant X26 XM_047437499.1:c.2904-2869= XM_047437499.1:c.2904-2869T>C
ATP9B transcript variant X27 XM_047437500.1:c.2904-2869= XM_047437500.1:c.2904-2869T>C
ATP9B transcript variant X32 XM_047437501.1:c.1800-2869= XM_047437501.1:c.1800-2869T>C
ATP9B transcript variant X33 XM_047437502.1:c.1695-2869= XM_047437502.1:c.1695-2869T>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#.

66 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13806580 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss16783946 Feb 27, 2004 (120)
3 BCMHGSC_JDW ss90873382 Mar 24, 2008 (129)
4 BGI ss106040656 Feb 04, 2009 (130)
5 1000GENOMES ss110948859 Jan 25, 2009 (130)
6 ILLUMINA-UK ss117962384 Feb 14, 2009 (130)
7 ENSEMBL ss137503549 Dec 01, 2009 (131)
8 ILLUMINA ss161029440 Dec 01, 2009 (131)
9 ENSEMBL ss161867603 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss172063174 Jul 04, 2010 (132)
11 BUSHMAN ss203556777 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss208072078 Jul 04, 2010 (132)
13 1000GENOMES ss211925282 Jul 14, 2010 (132)
14 1000GENOMES ss227997300 Jul 14, 2010 (132)
15 1000GENOMES ss237569347 Jul 15, 2010 (132)
16 1000GENOMES ss243798200 Jul 15, 2010 (132)
17 GMI ss283088957 May 04, 2012 (137)
18 PJP ss292118429 May 09, 2011 (134)
19 ILLUMINA ss483016362 Sep 08, 2015 (146)
20 SSMP ss661642102 Apr 25, 2013 (138)
21 EVA-GONL ss993987356 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1081697209 Aug 21, 2014 (142)
23 1000GENOMES ss1361967968 Aug 21, 2014 (142)
24 DDI ss1428303058 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1578515609 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1637389105 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1680383138 Apr 01, 2015 (144)
28 EVA_DECODE ss1698051505 Apr 01, 2015 (144)
29 HAMMER_LAB ss1809163041 Sep 08, 2015 (146)
30 WEILL_CORNELL_DGM ss1937459149 Feb 12, 2016 (147)
31 GENOMED ss1968589012 Jul 19, 2016 (147)
32 JJLAB ss2029506450 Sep 14, 2016 (149)
33 USC_VALOUEV ss2158014530 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2223514295 Dec 20, 2016 (150)
35 SYSTEMSBIOZJU ss2629252015 Nov 08, 2017 (151)
36 GRF ss2702617131 Nov 08, 2017 (151)
37 GNOMAD ss2959308770 Nov 08, 2017 (151)
38 SWEGEN ss3016916213 Nov 08, 2017 (151)
39 BIOINF_KMB_FNS_UNIBA ss3028585735 Nov 08, 2017 (151)
40 CSHL ss3352145831 Nov 08, 2017 (151)
41 ILLUMINA ss3636407991 Oct 12, 2018 (152)
42 EGCUT_WGS ss3683771255 Jul 13, 2019 (153)
43 EVA_DECODE ss3702133171 Jul 13, 2019 (153)
44 ACPOP ss3742764791 Jul 13, 2019 (153)
45 EVA ss3755692485 Jul 13, 2019 (153)
46 KHV_HUMAN_GENOMES ss3820948018 Jul 13, 2019 (153)
47 EVA ss3835298276 Apr 27, 2020 (154)
48 EVA ss3841271731 Apr 27, 2020 (154)
49 EVA ss3846775314 Apr 27, 2020 (154)
50 SGDP_PRJ ss3887526204 Apr 27, 2020 (154)
51 KRGDB ss3937437786 Apr 27, 2020 (154)
52 KOGIC ss3980594633 Apr 27, 2020 (154)
53 TOPMED ss5064829389 Apr 27, 2021 (155)
54 TOMMO_GENOMICS ss5226226277 Apr 27, 2021 (155)
55 1000G_HIGH_COVERAGE ss5306120262 Oct 16, 2022 (156)
56 EVA ss5432939847 Oct 16, 2022 (156)
57 HUGCELL_USP ss5498811200 Oct 16, 2022 (156)
58 EVA ss5512024414 Oct 16, 2022 (156)
59 1000G_HIGH_COVERAGE ss5611379442 Oct 16, 2022 (156)
60 SANFORD_IMAGENETICS ss5661776543 Oct 16, 2022 (156)
61 TOMMO_GENOMICS ss5784318490 Oct 16, 2022 (156)
62 YY_MCH ss5817313938 Oct 16, 2022 (156)
63 EVA ss5827881576 Oct 16, 2022 (156)
64 EVA ss5852165274 Oct 16, 2022 (156)
65 EVA ss5875037772 Oct 16, 2022 (156)
66 EVA ss5953212431 Oct 16, 2022 (156)
67 1000Genomes NC_000018.9 - 77116485 Oct 12, 2018 (152)
68 1000Genomes_30x NC_000018.10 - 79356485 Oct 16, 2022 (156)
69 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 77116485 Oct 12, 2018 (152)
70 Genetic variation in the Estonian population NC_000018.9 - 77116485 Oct 12, 2018 (152)
71 The Danish reference pan genome NC_000018.9 - 77116485 Apr 27, 2020 (154)
72 gnomAD - Genomes NC_000018.10 - 79356485 Apr 27, 2021 (155)
73 Genome of the Netherlands Release 5 NC_000018.9 - 77116485 Apr 27, 2020 (154)
74 HapMap NC_000018.10 - 79356485 Apr 27, 2020 (154)
75 KOREAN population from KRGDB NC_000018.9 - 77116485 Apr 27, 2020 (154)
76 Korean Genome Project NC_000018.10 - 79356485 Apr 27, 2020 (154)
77 Northern Sweden NC_000018.9 - 77116485 Jul 13, 2019 (153)
78 Qatari NC_000018.9 - 77116485 Apr 27, 2020 (154)
79 SGDP_PRJ NC_000018.9 - 77116485 Apr 27, 2020 (154)
80 Siberian NC_000018.9 - 77116485 Apr 27, 2020 (154)
81 8.3KJPN NC_000018.9 - 77116485 Apr 27, 2021 (155)
82 14KJPN NC_000018.10 - 79356485 Oct 16, 2022 (156)
83 TopMed NC_000018.10 - 79356485 Apr 27, 2021 (155)
84 UK 10K study - Twins NC_000018.9 - 77116485 Oct 12, 2018 (152)
85 A Vietnamese Genetic Variation Database NC_000018.9 - 77116485 Jul 13, 2019 (153)
86 ALFA NC_000018.10 - 79356485 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss90873382, ss110948859, ss117962384, ss172063174, ss203556777, ss208072078, ss211925282, ss283088957, ss292118429, ss1698051505 NC_000018.8:75217472:T:C NC_000018.10:79356484:T:C (self)
75331133, 41763626, 29509503, 4703168, 18608686, 44615180, 16049656, 19501071, 39543184, 10530884, 84195584, 41763626, 9236515, ss227997300, ss237569347, ss243798200, ss483016362, ss661642102, ss993987356, ss1081697209, ss1361967968, ss1428303058, ss1578515609, ss1637389105, ss1680383138, ss1809163041, ss1937459149, ss1968589012, ss2029506450, ss2158014530, ss2629252015, ss2702617131, ss2959308770, ss3016916213, ss3352145831, ss3636407991, ss3683771255, ss3742764791, ss3755692485, ss3835298276, ss3841271731, ss3887526204, ss3937437786, ss5226226277, ss5432939847, ss5512024414, ss5661776543, ss5827881576, ss5953212431 NC_000018.9:77116484:T:C NC_000018.10:79356484:T:C (self)
98905377, 531227794, 1656212, 36972634, 118155594, 280375052, 12461957695, ss2223514295, ss3028585735, ss3702133171, ss3820948018, ss3846775314, ss3980594633, ss5064829389, ss5306120262, ss5498811200, ss5611379442, ss5784318490, ss5817313938, ss5852165274, ss5875037772 NC_000018.10:79356484:T:C NC_000018.10:79356484:T:C (self)
ss13806580, ss16783946 NT_010879.14:1344664:T:C NC_000018.10:79356484:T:C (self)
ss106040656, ss137503549, ss161029440, ss161867603 NT_025028.14:24907348:T:C NC_000018.10:79356484:T:C (self)
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 rs9965837

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