rs9634421

Homo sapiens
G>A
ATP8A2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0379 (11345/29910,GnomAD)
G==0357 (10407/29116,TOPMED)
G==0294 (1473/5008,1000G)
G==0416 (1603/3854,ALSPAC)
G==0413 (1531/3708,TWINSUK)
chr13:25735110 (GRCh38.p7) (13q12.13)
AD
GWASdb2
1   publication(s)
See rs on genome
67 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.25735110G>A
ATP8A2 RefSeqGeneNG_042855.1:g.368100G>A
GRCh38.p7 chr 13 alt locus HSCHR13_1_CTG2NT_187593.1:g.97558C>T
GRCh37.p13 chr 13NC_000013.10:g.26309248G>A

Gene: ATP8A2, ATPase phospholipid transporting 8A2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ATP8A2 transcript variant 2NM_001313741.1:c.N/AIntron Variant
ATP8A2 transcript variant 1NM_016529.5:c.N/AIntron Variant
ATP8A2 transcript variant X2XM_005266419.1:c.N/AIntron Variant
ATP8A2 transcript variant X1XM_011535103.1:c.N/AIntron Variant
ATP8A2 transcript variant X3XM_011535104.2:c.N/AIntron Variant
ATP8A2 transcript variant X4XM_011535106.1:c.N/AIntron Variant
ATP8A2 transcript variant X5XM_011535107.2:c.N/AIntron Variant
ATP8A2 transcript variant X6XM_011535109.2:c.N/AIntron Variant
ATP8A2 transcript variant X7XM_011535112.1:c.N/AIntron Variant
ATP8A2 transcript variant X8XM_011535113.2:c.N/AGenic Downstream Transcript Variant
ATP8A2 transcript variant X9XM_017020625.1:c.N/AGenic Downstream Transcript Variant
ATP8A2 transcript variant X10XM_017020626.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.259A=0.741
1000GenomesAmericanSub694G=0.340A=0.660
1000GenomesEast AsianSub1008G=0.257A=0.743
1000GenomesEuropeSub1006G=0.408A=0.592
1000GenomesGlobalStudy-wide5008G=0.294A=0.706
1000GenomesSouth AsianSub978G=0.230A=0.770
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.416A=0.584
The Genome Aggregation DatabaseAfricanSub8700G=0.298A=0.702
The Genome Aggregation DatabaseAmericanSub834G=0.330A=0.670
The Genome Aggregation DatabaseEast AsianSub1616G=0.229A=0.771
The Genome Aggregation DatabaseEuropeSub18458G=0.434A=0.565
The Genome Aggregation DatabaseGlobalStudy-wide29910G=0.379A=0.620
The Genome Aggregation DatabaseOtherSub302G=0.270A=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.357A=0.642
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.413A=0.587
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
rs96344210.000995alcohol consumption (maxi-drinks)24277619

eQTL of rs9634421 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 rs9634421 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 )
chr132633019526330235E06820947
chr132633057626330940E06821328
chr132635079926351221E06841551
chr132635141826351469E06842170
chr132626591026266066E070-43182
chr132626612926266755E070-42493
chr132628179126281855E070-27393
chr132628194926282160E070-27088
chr132628220926282300E070-26948
chr132630103926301102E070-8146
chr132630123126301281E070-7967
chr132630129626301362E070-7886
chr132630147926301758E070-7490
chr132631158626311636E0702338
chr132631209426313567E0702846
chr132635218326352308E07042935
chr132635231426352844E07043066
chr132632722926328830E07117981
chr132626139926262359E073-46889
chr132626139926262359E081-46889
chr132626258426262656E081-46592
chr132626266126263075E081-46173
chr132628194926282160E081-27088
chr132628220926282300E081-26948
chr132630577826306350E081-2898
chr132631209426313567E0812846
chr132631768026317897E0818432
chr132631792526318064E0818677
chr132631820626318277E0818958
chr132631835526318694E0819107
chr132631877326319032E0819525
chr132631939426319565E08110146
chr132631990826320626E08110660
chr132632072726320897E08111479
chr132632091726321170E08111669
chr132632139026321455E08112142
chr132632167026321807E08112422
chr132632195926322014E08112711
chr132632270226322914E08113454
chr132632324126323324E08113993
chr132632336226323440E08114114
chr132633119426331360E08121946
chr132633147726331604E08122229
chr132633162726331782E08122379
chr132634259326343965E08133345
chr132635211626352178E08142868
chr132635218326352308E08142935
chr132635231426352844E08143066
chr132635291626354189E08143668
chr132635476026354810E08145512
chr132626591026266066E082-43182
chr132626612926266755E082-42493
chr132630559726305667E082-3581
chr132630577826306350E082-2898
chr132631792526318064E0828677
chr132631820626318277E0828958
chr132631835526318694E0829107
chr132631990826320626E08210660
chr132632072726320897E08211479
chr132635022626350521E08240978
chr132635064226350682E08241394
chr132635079926351221E08241551
chr132635141826351469E08242170
chr132635177526351850E08242527
chr132635211626352178E08242868
chr132635616126356211E08246913
chr132635628326356358E08247035