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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.

rs76779215

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:79245709 (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 / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.432615 (47489/109772, GnomAD)
C=0.30513 (8598/28178, 14KJPN)
C=0.30445 (5060/16620, 8.3KJPN) (+ 10 more)
C=0.3728 (1867/5008, 1000G)
C=0.0358 (147/4104, ALFA)
C=0.4367 (1683/3854, ALSPAC)
C=0.4428 (1642/3708, TWINSUK)
C=0.3259 (955/2930, KOREAN)
C=0.2952 (536/1816, Korea1K)
C=0.441 (440/998, GoNL)
T=0.389 (129/332, SGDP_PRJ)
C=0.435 (94/216, Qatari)
T=0.38 (16/42, Siberian)
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 4104 T=0.9642 C=0.0358, G=0.0000
European Sub 2176 T=0.9701 C=0.0299, G=0.0000
African Sub 1292 T=0.9930 C=0.0070, G=0.0000
African Others Sub 58 T=1.00 C=0.00, G=0.00
African American Sub 1234 T=0.9927 C=0.0073, G=0.0000
Asian Sub 48 T=1.00 C=0.00, G=0.00
East Asian Sub 40 T=1.00 C=0.00, G=0.00
Other Asian Sub 8 T=1.0 C=0.0, G=0.0
Latin American 1 Sub 62 T=1.00 C=0.00, G=0.00
Latin American 2 Sub 168 T=1.000 C=0.000, G=0.000
South Asian Sub 28 T=1.00 C=0.00, G=0.00
Other Sub 330 T=0.779 C=0.221, G=0.000


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
gnomAD - Genomes Global Study-wide 109772 T=0.567385 C=0.432615
gnomAD - Genomes European Sub 63412 T=0.51601 C=0.48399
gnomAD - Genomes African Sub 28060 T=0.70862 C=0.29138
gnomAD - Genomes American Sub 11090 T=0.50442 C=0.49558
gnomAD - Genomes Ashkenazi Jewish Sub 3006 T=0.4774 C=0.5226
gnomAD - Genomes East Asian Sub 2514 T=0.6786 C=0.3214
gnomAD - Genomes Other Sub 1690 T=0.5580 C=0.4420
14KJPN JAPANESE Study-wide 28178 T=0.69487 C=0.30513
8.3KJPN JAPANESE Study-wide 16620 T=0.69555 C=0.30445
1000Genomes Global Study-wide 5008 T=0.6272 C=0.3728
1000Genomes African Sub 1322 T=0.7776 C=0.2224
1000Genomes East Asian Sub 1008 T=0.6310 C=0.3690
1000Genomes Europe Sub 1006 T=0.5338 C=0.4662
1000Genomes South Asian Sub 978 T=0.575 C=0.425
1000Genomes American Sub 694 T=0.545 C=0.455
Allele Frequency Aggregator Total Global 4104 T=0.9642 C=0.0358, G=0.0000
Allele Frequency Aggregator European Sub 2176 T=0.9701 C=0.0299, G=0.0000
Allele Frequency Aggregator African Sub 1292 T=0.9930 C=0.0070, G=0.0000
Allele Frequency Aggregator Other Sub 330 T=0.779 C=0.221, G=0.000
Allele Frequency Aggregator Latin American 2 Sub 168 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Latin American 1 Sub 62 T=1.00 C=0.00, G=0.00
Allele Frequency Aggregator Asian Sub 48 T=1.00 C=0.00, G=0.00
Allele Frequency Aggregator South Asian Sub 28 T=1.00 C=0.00, G=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5633 C=0.4367
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5572 C=0.4428
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6741 C=0.3259
Korean Genome Project KOREAN Study-wide 1816 T=0.7048 C=0.2952
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.559 C=0.441
SGDP_PRJ Global Study-wide 332 T=0.389 C=0.611
Qatari Global Study-wide 216 T=0.565 C=0.435
Siberian Global Study-wide 42 T=0.38 C=0.62
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.79245709T>C
GRCh38.p14 chr 18 NC_000018.10:g.79245709T>G
GRCh37.p13 chr 18 NC_000018.9:g.77005709T>C
GRCh37.p13 chr 18 NC_000018.9:g.77005709T>G
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.1108-767…

NM_001306085.2:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant 1 NM_198531.5:c.1108-7672T>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.1111-767…

XM_011525963.3:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X2 XM_011525964.3:c.1108-767…

XM_011525964.3:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant X10 XM_011525966.3:c.991-7672…

XM_011525966.3:c.991-7672T>C

N/A Intron Variant
ATP9B transcript variant X28 XM_011525971.3:c.508-7672…

XM_011525971.3:c.508-7672T>C

N/A Intron Variant
ATP9B transcript variant X29 XM_011525972.3:c.361-7672…

XM_011525972.3:c.361-7672T>C

N/A Intron Variant
ATP9B transcript variant X30 XM_011525973.3:c.238-7672…

XM_011525973.3:c.238-7672T>C

N/A Intron Variant
ATP9B transcript variant X31 XM_011525974.3:c.190-7672…

XM_011525974.3:c.190-7672T>C

N/A Intron Variant
ATP9B transcript variant X3 XM_017025726.2:c.1111-767…

XM_017025726.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X4 XM_017025727.2:c.1111-767…

XM_017025727.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X6 XM_017025728.3:c.1111-767…

XM_017025728.3:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X7 XM_017025729.2:c.1111-767…

XM_017025729.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X8 XM_017025730.2:c.1111-767…

XM_017025730.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X11 XM_017025731.2:c.1111-767…

XM_017025731.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X13 XM_017025732.2:c.1111-767…

XM_017025732.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X16 XM_017025733.2:c.1111-767…

XM_017025733.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X18 XM_017025734.2:c.1111-767…

XM_017025734.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X19 XM_017025735.3:c.1111-767…

XM_017025735.3:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X21 XM_017025736.3:c.1111-767…

XM_017025736.3:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X24 XM_017025737.2:c.1111-767…

XM_017025737.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X34 XM_017025742.2:c.1111-767…

XM_017025742.2:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X5 XM_047437489.1:c.1108-767…

XM_047437489.1:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant X9 XM_047437490.1:c.991-7672…

XM_047437490.1:c.991-7672T>C

N/A Intron Variant
ATP9B transcript variant X12 XM_047437491.1:c.991-7672…

XM_047437491.1:c.991-7672T>C

N/A Intron Variant
ATP9B transcript variant X14 XM_047437492.1:c.1108-767…

XM_047437492.1:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant X15 XM_047437493.1:c.991-7672…

XM_047437493.1:c.991-7672T>C

N/A Intron Variant
ATP9B transcript variant X17 XM_047437494.1:c.1108-767…

XM_047437494.1:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant X20 XM_047437495.1:c.1111-767…

XM_047437495.1:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X22 XM_047437496.1:c.1111-767…

XM_047437496.1:c.1111-7672T>C

N/A Intron Variant
ATP9B transcript variant X23 XM_047437497.1:c.1108-767…

XM_047437497.1:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant X25 XM_047437498.1:c.1108-767…

XM_047437498.1:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant X26 XM_047437499.1:c.1108-767…

XM_047437499.1:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant X27 XM_047437500.1:c.1108-767…

XM_047437500.1:c.1108-7672T>C

N/A Intron Variant
ATP9B transcript variant X32 XM_047437501.1:c.-75-7672…

XM_047437501.1:c.-75-7672T>C

N/A Intron Variant
ATP9B transcript variant X33 XM_047437502.1: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 T= C G
GRCh38.p14 chr 18 NC_000018.10:g.79245709= NC_000018.10:g.79245709T>C NC_000018.10:g.79245709T>G
GRCh37.p13 chr 18 NC_000018.9:g.77005709= NC_000018.9:g.77005709T>C NC_000018.9:g.77005709T>G
ATP9B transcript variant 2 NM_001306085.2:c.1108-7672= NM_001306085.2:c.1108-7672T>C NM_001306085.2:c.1108-7672T>G
ATP9B transcript NM_198531.3:c.1108-7672= NM_198531.3:c.1108-7672T>C NM_198531.3:c.1108-7672T>G
ATP9B transcript variant 1 NM_198531.5:c.1108-7672= NM_198531.5:c.1108-7672T>C NM_198531.5:c.1108-7672T>G
ATP9B transcript variant X1 XM_005266690.1:c.1108-7672= XM_005266690.1:c.1108-7672T>C XM_005266690.1:c.1108-7672T>G
ATP9B transcript variant X10 XM_005266691.1:c.1108-7672= XM_005266691.1:c.1108-7672T>C XM_005266691.1:c.1108-7672T>G
ATP9B transcript variant X3 XM_005266692.1:c.1108-7672= XM_005266692.1:c.1108-7672T>C XM_005266692.1:c.1108-7672T>G
ATP9B transcript variant X4 XM_005266693.1:c.1108-7672= XM_005266693.1:c.1108-7672T>C XM_005266693.1:c.1108-7672T>G
ATP9B transcript variant X5 XM_005266694.1:c.1108-7672= XM_005266694.1:c.1108-7672T>C XM_005266694.1:c.1108-7672T>G
ATP9B transcript variant X6 XM_005266695.1:c.1108-7672= XM_005266695.1:c.1108-7672T>C XM_005266695.1:c.1108-7672T>G
ATP9B transcript variant X7 XM_005266696.1:c.28-7672= XM_005266696.1:c.28-7672T>C XM_005266696.1:c.28-7672T>G
ATP9B transcript variant X1 XM_011525963.3:c.1111-7672= XM_011525963.3:c.1111-7672T>C XM_011525963.3:c.1111-7672T>G
ATP9B transcript variant X2 XM_011525964.3:c.1108-7672= XM_011525964.3:c.1108-7672T>C XM_011525964.3:c.1108-7672T>G
ATP9B transcript variant X10 XM_011525966.3:c.991-7672= XM_011525966.3:c.991-7672T>C XM_011525966.3:c.991-7672T>G
ATP9B transcript variant X28 XM_011525971.3:c.508-7672= XM_011525971.3:c.508-7672T>C XM_011525971.3:c.508-7672T>G
ATP9B transcript variant X29 XM_011525972.3:c.361-7672= XM_011525972.3:c.361-7672T>C XM_011525972.3:c.361-7672T>G
ATP9B transcript variant X30 XM_011525973.3:c.238-7672= XM_011525973.3:c.238-7672T>C XM_011525973.3:c.238-7672T>G
ATP9B transcript variant X31 XM_011525974.3:c.190-7672= XM_011525974.3:c.190-7672T>C XM_011525974.3:c.190-7672T>G
ATP9B transcript variant X3 XM_017025726.2:c.1111-7672= XM_017025726.2:c.1111-7672T>C XM_017025726.2:c.1111-7672T>G
ATP9B transcript variant X4 XM_017025727.2:c.1111-7672= XM_017025727.2:c.1111-7672T>C XM_017025727.2:c.1111-7672T>G
ATP9B transcript variant X6 XM_017025728.3:c.1111-7672= XM_017025728.3:c.1111-7672T>C XM_017025728.3:c.1111-7672T>G
ATP9B transcript variant X7 XM_017025729.2:c.1111-7672= XM_017025729.2:c.1111-7672T>C XM_017025729.2:c.1111-7672T>G
ATP9B transcript variant X8 XM_017025730.2:c.1111-7672= XM_017025730.2:c.1111-7672T>C XM_017025730.2:c.1111-7672T>G
ATP9B transcript variant X11 XM_017025731.2:c.1111-7672= XM_017025731.2:c.1111-7672T>C XM_017025731.2:c.1111-7672T>G
ATP9B transcript variant X13 XM_017025732.2:c.1111-7672= XM_017025732.2:c.1111-7672T>C XM_017025732.2:c.1111-7672T>G
ATP9B transcript variant X16 XM_017025733.2:c.1111-7672= XM_017025733.2:c.1111-7672T>C XM_017025733.2:c.1111-7672T>G
ATP9B transcript variant X18 XM_017025734.2:c.1111-7672= XM_017025734.2:c.1111-7672T>C XM_017025734.2:c.1111-7672T>G
ATP9B transcript variant X19 XM_017025735.3:c.1111-7672= XM_017025735.3:c.1111-7672T>C XM_017025735.3:c.1111-7672T>G
ATP9B transcript variant X21 XM_017025736.3:c.1111-7672= XM_017025736.3:c.1111-7672T>C XM_017025736.3:c.1111-7672T>G
ATP9B transcript variant X24 XM_017025737.2:c.1111-7672= XM_017025737.2:c.1111-7672T>C XM_017025737.2:c.1111-7672T>G
ATP9B transcript variant X34 XM_017025742.2:c.1111-7672= XM_017025742.2:c.1111-7672T>C XM_017025742.2:c.1111-7672T>G
ATP9B transcript variant X5 XM_047437489.1:c.1108-7672= XM_047437489.1:c.1108-7672T>C XM_047437489.1:c.1108-7672T>G
ATP9B transcript variant X9 XM_047437490.1:c.991-7672= XM_047437490.1:c.991-7672T>C XM_047437490.1:c.991-7672T>G
ATP9B transcript variant X12 XM_047437491.1:c.991-7672= XM_047437491.1:c.991-7672T>C XM_047437491.1:c.991-7672T>G
ATP9B transcript variant X14 XM_047437492.1:c.1108-7672= XM_047437492.1:c.1108-7672T>C XM_047437492.1:c.1108-7672T>G
ATP9B transcript variant X15 XM_047437493.1:c.991-7672= XM_047437493.1:c.991-7672T>C XM_047437493.1:c.991-7672T>G
ATP9B transcript variant X17 XM_047437494.1:c.1108-7672= XM_047437494.1:c.1108-7672T>C XM_047437494.1:c.1108-7672T>G
ATP9B transcript variant X20 XM_047437495.1:c.1111-7672= XM_047437495.1:c.1111-7672T>C XM_047437495.1:c.1111-7672T>G
ATP9B transcript variant X22 XM_047437496.1:c.1111-7672= XM_047437496.1:c.1111-7672T>C XM_047437496.1:c.1111-7672T>G
ATP9B transcript variant X23 XM_047437497.1:c.1108-7672= XM_047437497.1:c.1108-7672T>C XM_047437497.1:c.1108-7672T>G
ATP9B transcript variant X25 XM_047437498.1:c.1108-7672= XM_047437498.1:c.1108-7672T>C XM_047437498.1:c.1108-7672T>G
ATP9B transcript variant X26 XM_047437499.1:c.1108-7672= XM_047437499.1:c.1108-7672T>C XM_047437499.1:c.1108-7672T>G
ATP9B transcript variant X27 XM_047437500.1:c.1108-7672= XM_047437500.1:c.1108-7672T>C XM_047437500.1:c.1108-7672T>G
ATP9B transcript variant X32 XM_047437501.1:c.-75-7672= XM_047437501.1:c.-75-7672T>C XM_047437501.1:c.-75-7672T>G
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#.

47 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 ENSEMBL ss136334130 Dec 01, 2009 (131)
2 GMI ss155495173 Dec 01, 2009 (131)
3 COMPLETE_GENOMICS ss168592210 Jul 04, 2010 (132)
4 COMPLETE_GENOMICS ss170457013 Jul 04, 2010 (132)
5 COMPLETE_GENOMICS ss172062216 Jul 04, 2010 (132)
6 1000GENOMES ss227996801 Jul 14, 2010 (132)
7 1000GENOMES ss237569035 Jul 15, 2010 (132)
8 1000GENOMES ss243798000 Jul 15, 2010 (132)
9 BL ss255820493 May 09, 2011 (134)
10 GMI ss283088644 May 04, 2012 (137)
11 SSMP ss661641352 Apr 25, 2013 (138)
12 EVA-GONL ss993986401 Aug 21, 2014 (142)
13 JMKIDD_LAB ss1081696575 Aug 21, 2014 (142)
14 1000GENOMES ss1361964463 Aug 21, 2014 (142)
15 DDI ss1428302796 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1637387203 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1680381236 Apr 01, 2015 (144)
18 HAMMER_LAB ss1809162812 Sep 08, 2015 (146)
19 WEILL_CORNELL_DGM ss1937458001 Feb 12, 2016 (147)
20 JJLAB ss2029505888 Sep 14, 2016 (149)
21 USC_VALOUEV ss2158014115 Dec 20, 2016 (150)
22 GRF ss2702616573 Nov 08, 2017 (151)
23 GNOMAD ss2959298462 Nov 08, 2017 (151)
24 SWEGEN ss3016914647 Nov 08, 2017 (151)
25 CSHL ss3352145381 Nov 08, 2017 (151)
26 URBANLAB ss3650846641 Oct 12, 2018 (152)
27 EVA ss3755691502 Jul 13, 2019 (153)
28 PACBIO ss3788440580 Jul 13, 2019 (153)
29 PACBIO ss3793363961 Jul 13, 2019 (153)
30 PACBIO ss3798250501 Jul 13, 2019 (153)
31 KHV_HUMAN_GENOMES ss3820946899 Jul 13, 2019 (153)
32 EVA ss3835297959 Apr 27, 2020 (154)
33 EVA ss3841271516 Apr 27, 2020 (154)
34 EVA ss3846775098 Apr 27, 2020 (154)
35 SGDP_PRJ ss3887523992 Apr 27, 2020 (154)
36 KRGDB ss3937435364 Apr 27, 2020 (154)
37 KOGIC ss3980592951 Apr 27, 2020 (154)
38 TOMMO_GENOMICS ss5226222128 Apr 27, 2021 (155)
39 1000G_HIGH_COVERAGE ss5306117061 Oct 16, 2022 (156)
40 EVA ss5432934109 Oct 16, 2022 (156)
41 SANFORD_IMAGENETICS ss5661774667 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5784312860 Oct 16, 2022 (156)
43 YY_MCH ss5817313211 Oct 16, 2022 (156)
44 EVA ss5827880217 Oct 16, 2022 (156)
45 EVA ss5852165025 Oct 16, 2022 (156)
46 EVA ss5875034389 Oct 16, 2022 (156)
47 EVA ss5953210666 Oct 16, 2022 (156)
48 1000Genomes NC_000018.9 - 77005709 Oct 12, 2018 (152)
49 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 77005709 Oct 12, 2018 (152)
50 gnomAD - Genomes NC_000018.10 - 79245709 Apr 27, 2021 (155)
51 Genome of the Netherlands Release 5 NC_000018.9 - 77005709 Apr 27, 2020 (154)
52 KOREAN population from KRGDB NC_000018.9 - 77005709 Apr 27, 2020 (154)
53 Korean Genome Project NC_000018.10 - 79245709 Apr 27, 2020 (154)
54 Qatari NC_000018.9 - 77005709 Apr 27, 2020 (154)
55 SGDP_PRJ NC_000018.9 - 77005709 Apr 27, 2020 (154)
56 Siberian NC_000018.9 - 77005709 Apr 27, 2020 (154)
57 8.3KJPN NC_000018.9 - 77005709 Apr 27, 2021 (155)
58 14KJPN NC_000018.10 - 79245709 Oct 16, 2022 (156)
59 UK 10K study - Twins NC_000018.9 - 77005709 Oct 12, 2018 (152)
60 ALFA NC_000018.10 - 79245709 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
ss168592210, ss170457013, ss172062216, ss255820493, ss283088644 NC_000018.8:75106696:T:C NC_000018.10:79245708:T:C (self)
75327506, 41761587, 18607754, 44612758, 19499923, 39540972, 10530469, 84191435, 41761587, ss227996801, ss237569035, ss243798000, ss661641352, ss993986401, ss1081696575, ss1361964463, ss1428302796, ss1637387203, ss1680381236, ss1809162812, ss1937458001, ss2029505888, ss2158014115, ss2702616573, ss2959298462, ss3016914647, ss3352145381, ss3755691502, ss3788440580, ss3793363961, ss3798250501, ss3835297959, ss3841271516, ss3887523992, ss3937435364, ss5226222128, ss5432934109, ss5661774667, ss5827880217, ss5953210666 NC_000018.9:77005708:T:C NC_000018.10:79245708:T:C (self)
531203018, 36970952, 118149964, 4895606391, ss3650846641, ss3820946899, ss3846775098, ss3980592951, ss5306117061, ss5784312860, ss5817313211, ss5852165025, ss5875034389 NC_000018.10:79245708:T:C NC_000018.10:79245708:T:C (self)
ss136334130, ss155495173 NT_025028.14:24796572:T:C NC_000018.10:79245708:T:C (self)
4895606391 NC_000018.10:79245708:T:G NC_000018.10:79245708:T:G (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 rs76779215

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