rs1324408

Homo sapiens
A>G
ATP8A2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0416 (12452/29934,GnomAD)
G=0454 (13243/29116,TOPMED)
G=0409 (2050/5008,1000G)
G=0368 (1419/3854,ALSPAC)
G=0368 (1366/3708,TWINSUK)
chr13:25942322 (GRCh38.p7) (13q12.13)
AD
GWASdb2
1   publication(s)
See rs on genome
97 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.25942322A>G
GRCh37.p13 chr 13NC_000013.10:g.26516460A>G
ATP8A2 RefSeqGeneNG_042855.1:g.575312A>G

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 X6XM_011535109.2:c.N/AIntron Variant
ATP8A2 transcript variant X7XM_011535112.1:c.N/AIntron Variant
ATP8A2 transcript variant X4XM_011535106.1:c.N/AGenic Downstream Transcript Variant
ATP8A2 transcript variant X5XM_011535107.2:c.N/AGenic Downstream Transcript 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
1000GenomesAfricanSub1322A=0.358G=0.642
1000GenomesAmericanSub694A=0.670G=0.330
1000GenomesEast AsianSub1008A=0.696G=0.304
1000GenomesEuropeSub1006A=0.637G=0.363
1000GenomesGlobalStudy-wide5008A=0.591G=0.409
1000GenomesSouth AsianSub978A=0.690G=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.632G=0.368
The Genome Aggregation DatabaseAfricanSub8714A=0.384G=0.616
The Genome Aggregation DatabaseAmericanSub838A=0.680G=0.320
The Genome Aggregation DatabaseEast AsianSub1620A=0.738G=0.262
The Genome Aggregation DatabaseEuropeSub18460A=0.658G=0.341
The Genome Aggregation DatabaseGlobalStudy-wide29934A=0.584G=0.416
The Genome Aggregation DatabaseOtherSub302A=0.720G=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.545G=0.454
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.632G=0.368
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
rs13244080.000246alcohol dependence24277619

eQTL of rs1324408 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 rs1324408 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 )
chr132654559226545950E06729132
chr132654597426546199E06729514
chr132655700826557322E06740548
chr132653760026538414E06821140
chr132653760026538414E06921140
chr132654559226545950E06929132
chr132654597426546199E06929514
chr132655429326554433E06937833
chr132655445726554881E06937997
chr132648446226484694E070-31766
chr132648506626485878E070-30582
chr132648602226486072E070-30388
chr132649463926494827E070-21633
chr132650046226500533E070-15927
chr132650107526501125E070-15335
chr132650113426501263E070-15197
chr132650135126501401E070-15059
chr132650149226501574E070-14886
chr132650165726502657E070-13803
chr132651917226519377E0702712
chr132651980226520058E0703342
chr132652021926520271E0703759
chr132652033726520385E0703877
chr132652045326520656E0703993
chr132653760026538414E07021140
chr132656232726562590E07045867
chr132656269226563346E07046232
chr132651980226520058E0713342
chr132652021926520271E0713759
chr132652033726520385E0713877
chr132653760026538414E07121140
chr132654516026545590E07128700
chr132654559226545950E07129132
chr132654597426546199E07129514
chr132655624026556738E07139780
chr132655700826557322E07140548
chr132653760026538414E07221140
chr132654559226545950E07229132
chr132654597426546199E07229514
chr132655429326554433E07237833
chr132650135126501401E073-15059
chr132654597426546199E07329514
chr132653760026538414E07421140
chr132654516026545590E07428700
chr132654559226545950E07429132
chr132654597426546199E07429514
chr132655624026556738E07439780
chr132655700826557322E07440548
chr132648602226486072E081-30388
chr132648611726486499E081-29961
chr132648694826487044E081-29416
chr132648723526487396E081-29064
chr132648754026487605E081-28855
chr132648768526487763E081-28697
chr132648804726488097E081-28363
chr132648815826488286E081-28174
chr132650026226500372E081-16088
chr132650046226500533E081-15927
chr132650107526501125E081-15335
chr132650113426501263E081-15197
chr132650135126501401E081-15059
chr132650149226501574E081-14886
chr132650165726502657E081-13803
chr132650299426503123E081-13337
chr132650318626503343E081-13117
chr132650335626503519E081-12941
chr132650402426504091E081-12369
chr132650417926504275E081-12185
chr132650444426504558E081-11902
chr132650460326504694E081-11766
chr132650488526505068E081-11392
chr132650524926505299E081-11161
chr132650577226505928E081-10532
chr132651917226519377E0812712
chr132651980226520058E0813342
chr132654516026545590E08128700
chr132656232726562590E08145867
chr132656269226563346E08146232
chr132648694826487044E082-29416
chr132648723526487396E082-29064
chr132650026226500372E082-16088
chr132650046226500533E082-15927
chr132650107526501125E082-15335
chr132650113426501263E082-15197
chr132650135126501401E082-15059
chr132650149226501574E082-14886
chr132650165726502657E082-13803
chr132650299426503123E082-13337
chr132650318626503343E082-13117
chr132650335626503519E082-12941
chr132650402426504091E082-12369
chr132650417926504275E082-12185
chr132650664926506759E082-9701
chr132651917226519377E0822712
chr132651980226520058E0823342
chr132653760026538414E08221140
chr132656232726562590E08245867