rs9822272

Homo sapiens
A>G
ATP2B2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0149 (4480/29882,GnomAD)
G=0148 (4328/29118,TOPMED)
G=0191 (956/5008,1000G)
G=0111 (427/3854,ALSPAC)
G=0124 (460/3708,TWINSUK)
chr3:10600838 (GRCh38.p7) (3p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
163 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.10600838A>G
GRCh37.p13 chr 3NC_000003.11:g.10642523A>G

Gene: ATP2B2, ATPase plasma membrane Ca2+ transporting 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ATP2B2 transcript variant 1NM_001001331.2:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant 2NM_001683.3:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X2XM_005265179.4:c.N/AIntron Variant
ATP2B2 transcript variant X1XM_006713175.3:c.N/AIntron Variant
ATP2B2 transcript variant X3XM_017006481.1:c.N/AIntron Variant
ATP2B2 transcript variant X7XM_017006484.1:c.N/AIntron Variant
ATP2B2 transcript variant X10XM_017006487.1:c.N/AIntron Variant
ATP2B2 transcript variant X4XM_011533752.2:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X5XM_017006482.1:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X6XM_017006483.1:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X8XM_017006485.1:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X9XM_017006486.1:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X11XM_017006488.1:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X12XM_017006489.1:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X13XM_017006490.1:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X14XM_017006491.1:c.N/AGenic Upstream Transcript Variant
ATP2B2 transcript variant X15XM_017006492.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.809G=0.191
1000GenomesAmericanSub694A=0.900G=0.100
1000GenomesEast AsianSub1008A=0.734G=0.266
1000GenomesEuropeSub1006A=0.870G=0.130
1000GenomesGlobalStudy-wide5008A=0.809G=0.191
1000GenomesSouth AsianSub978A=0.760G=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.889G=0.111
The Genome Aggregation DatabaseAfricanSub8698A=0.819G=0.181
The Genome Aggregation DatabaseAmericanSub836A=0.870G=0.130
The Genome Aggregation DatabaseEast AsianSub1608A=0.723G=0.277
The Genome Aggregation DatabaseEuropeSub18438A=0.874G=0.125
The Genome Aggregation DatabaseGlobalStudy-wide29882A=0.850G=0.149
The Genome Aggregation DatabaseOtherSub302A=0.860G=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.851G=0.148
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.876G=0.124
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs98222720.000766alcohol consumption (maxi-drinks)24277619

eQTL of rs9822272 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs9822272 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr31059282510592879E067-49644
chr31059305610593234E067-49289
chr31059361610594142E067-48381
chr31059442610594559E067-47964
chr31059469210594747E067-47776
chr31059526410595360E067-47163
chr31059536410595659E067-46864
chr31062448910624565E067-17958
chr31062458610624647E067-17876
chr31063847110638790E067-3733
chr31064189710642040E067-483
chr31064204110642363E067-160
chr31064245710642749E0670
chr31064295010643155E067427
chr31064407510644202E0671552
chr31064510310645454E0672580
chr31065097610651178E0678453
chr31059282510592879E068-49644
chr31059305610593234E068-49289
chr31059361610594142E068-48381
chr31059442610594559E068-47964
chr31059469210594747E068-47776
chr31059526410595360E068-47163
chr31059536410595659E068-46864
chr31061234710612559E068-29964
chr31061287810612949E068-29574
chr31063847110638790E068-3733
chr31064189710642040E068-483
chr31064204110642363E068-160
chr31064245710642749E0680
chr31064295010643155E068427
chr31064407510644202E0681552
chr31064510310645454E0682580
chr31064593510645995E0683412
chr31065097610651178E0688453
chr31059282510592879E069-49644
chr31059305610593234E069-49289
chr31059361610594142E069-48381
chr31059442610594559E069-47964
chr31059469210594747E069-47776
chr31059526410595360E069-47163
chr31059536410595659E069-46864
chr31062448910624565E069-17958
chr31062458610624647E069-17876
chr31063847110638790E069-3733
chr31064189710642040E069-483
chr31064204110642363E069-160
chr31064245710642749E0690
chr31064295010643155E069427
chr31064510310645454E0692580
chr31065097610651178E0698453
chr31059282510592879E070-49644
chr31059305610593234E070-49289
chr31059361610594142E070-48381
chr31059469210594747E070-47776
chr31059526410595360E070-47163
chr31059536410595659E070-46864
chr31061934710619457E070-23066
chr31064189710642040E070-483
chr31064204110642363E070-160
chr31064245710642749E0700
chr31064295010643155E070427
chr31067065510670944E07028132
chr31067114510671195E07028622
chr31059282510592879E071-49644
chr31059305610593234E071-49289
chr31059361610594142E071-48381
chr31059442610594559E071-47964
chr31059469210594747E071-47776
chr31059526410595360E071-47163
chr31059536410595659E071-46864
chr31061234710612559E071-29964
chr31062448910624565E071-17958
chr31062458610624647E071-17876
chr31064189710642040E071-483
chr31064204110642363E071-160
chr31064245710642749E0710
chr31064295010643155E071427
chr31064407510644202E0711552
chr31065097610651178E0718453
chr31059282510592879E072-49644
chr31059305610593234E072-49289
chr31059361610594142E072-48381
chr31059442610594559E072-47964
chr31059469210594747E072-47776
chr31059526410595360E072-47163
chr31059536410595659E072-46864
chr31061029710610371E072-32152
chr31062448910624565E072-17958
chr31062458610624647E072-17876
chr31063847110638790E072-3733
chr31064189710642040E072-483
chr31064204110642363E072-160
chr31064245710642749E0720
chr31064295010643155E072427
chr31064510310645454E0722580
chr31065817310658266E07215650
chr31067065510670944E07228132
chr31067114510671195E07228622
chr31059282510592879E073-49644
chr31059305610593234E073-49289
chr31059361610594142E073-48381
chr31059442610594559E073-47964
chr31059469210594747E073-47776
chr31059526410595360E073-47163
chr31059536410595659E073-46864
chr31062448910624565E073-17958
chr31062458610624647E073-17876
chr31063053010630615E073-11908
chr31063847110638790E073-3733
chr31064189710642040E073-483
chr31064204110642363E073-160
chr31064245710642749E0730
chr31064295010643155E073427
chr31064407510644202E0731552
chr31064510310645454E0732580
chr31065097610651178E0738453
chr31059282510592879E074-49644
chr31059305610593234E074-49289
chr31059361610594142E074-48381
chr31059442610594559E074-47964
chr31059469210594747E074-47776
chr31059526410595360E074-47163
chr31059536410595659E074-46864
chr31061287810612949E074-29574
chr31063847110638790E074-3733
chr31064189710642040E074-483
chr31064204110642363E074-160
chr31064245710642749E0740
chr31064295010643155E074427
chr31064407510644202E0741552
chr31065097610651178E0748453
chr31059282510592879E081-49644
chr31059305610593234E081-49289
chr31059361610594142E081-48381
chr31059442610594559E081-47964
chr31059469210594747E081-47776
chr31059526410595360E081-47163
chr31059536410595659E081-46864
chr31061598710616166E081-26357
chr31061934710619457E081-23066
chr31063847110638790E081-3733
chr31064189710642040E081-483
chr31064204110642363E081-160
chr31064245710642749E0810
chr31064295010643155E081427
chr31065097610651178E0818453
chr31065817310658266E08115650
chr31067065510670944E08128132
chr31067114510671195E08128622
chr31067138610671800E08128863
chr31059282510592879E082-49644
chr31059305610593234E082-49289
chr31059361610594142E082-48381
chr31059526410595360E082-47163
chr31059536410595659E082-46864
chr31062448910624565E082-17958
chr31063810510638417E082-4106
chr31063847110638790E082-3733
chr31065097610651178E0828453
chr31067065510670944E08228132
chr31067114510671195E08228622
chr31067138610671800E08228863