rs184249

Homo sapiens
G>A
ATP8A2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0468 (14020/29930,GnomAD)
G==0494 (14410/29116,TOPMED)
G==0451 (2259/5008,1000G)
G==0467 (1800/3854,ALSPAC)
G==0458 (1699/3708,TWINSUK)
chr13:25935931 (GRCh38.p7) (13q12.13)
AD
GWASdb2
1   publication(s)
See rs on genome
92 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.25935931G>A
GRCh37.p13 chr 13NC_000013.10:g.26510069G>A
ATP8A2 RefSeqGeneNG_042855.1:g.568921G>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 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
1000GenomesAfricanSub1322G=0.592A=0.408
1000GenomesAmericanSub694G=0.410A=0.590
1000GenomesEast AsianSub1008G=0.296A=0.704
1000GenomesEuropeSub1006G=0.465A=0.535
1000GenomesGlobalStudy-wide5008G=0.451A=0.549
1000GenomesSouth AsianSub978G=0.440A=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.467A=0.533
The Genome Aggregation DatabaseAfricanSub8708G=0.558A=0.442
The Genome Aggregation DatabaseAmericanSub838G=0.360A=0.640
The Genome Aggregation DatabaseEast AsianSub1616G=0.258A=0.742
The Genome Aggregation DatabaseEuropeSub18466G=0.449A=0.550
The Genome Aggregation DatabaseGlobalStudy-wide29930G=0.468A=0.531
The Genome Aggregation DatabaseOtherSub302G=0.470A=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.494A=0.505
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.458A=0.542
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
rs1842490.000872alcohol dependence24277619

eQTL of rs184249 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 rs184249 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 )
chr132654559226545950E06735523
chr132654597426546199E06735905
chr132655700826557322E06746939
chr132653760026538414E06827531
chr132653760026538414E06927531
chr132654559226545950E06935523
chr132654597426546199E06935905
chr132655429326554433E06944224
chr132655445726554881E06944388
chr132648446226484694E070-25375
chr132648506626485878E070-24191
chr132648602226486072E070-23997
chr132649463926494827E070-15242
chr132650046226500533E070-9536
chr132650107526501125E070-8944
chr132650113426501263E070-8806
chr132650135126501401E070-8668
chr132650149226501574E070-8495
chr132650165726502657E070-7412
chr132651917226519377E0709103
chr132651980226520058E0709733
chr132652021926520271E07010150
chr132652033726520385E07010268
chr132652045326520656E07010384
chr132653760026538414E07027531
chr132651980226520058E0719733
chr132652021926520271E07110150
chr132652033726520385E07110268
chr132653760026538414E07127531
chr132654516026545590E07135091
chr132654559226545950E07135523
chr132654597426546199E07135905
chr132655624026556738E07146171
chr132655700826557322E07146939
chr132653760026538414E07227531
chr132654559226545950E07235523
chr132654597426546199E07235905
chr132655429326554433E07244224
chr132650135126501401E073-8668
chr132654597426546199E07335905
chr132653760026538414E07427531
chr132654516026545590E07435091
chr132654559226545950E07435523
chr132654597426546199E07435905
chr132655624026556738E07446171
chr132655700826557322E07446939
chr132648602226486072E081-23997
chr132648611726486499E081-23570
chr132648694826487044E081-23025
chr132648723526487396E081-22673
chr132648754026487605E081-22464
chr132648768526487763E081-22306
chr132648804726488097E081-21972
chr132648815826488286E081-21783
chr132650026226500372E081-9697
chr132650046226500533E081-9536
chr132650107526501125E081-8944
chr132650113426501263E081-8806
chr132650135126501401E081-8668
chr132650149226501574E081-8495
chr132650165726502657E081-7412
chr132650299426503123E081-6946
chr132650318626503343E081-6726
chr132650335626503519E081-6550
chr132650402426504091E081-5978
chr132650417926504275E081-5794
chr132650444426504558E081-5511
chr132650460326504694E081-5375
chr132650488526505068E081-5001
chr132650524926505299E081-4770
chr132650577226505928E081-4141
chr132651917226519377E0819103
chr132651980226520058E0819733
chr132654516026545590E08135091
chr132648694826487044E082-23025
chr132648723526487396E082-22673
chr132650026226500372E082-9697
chr132650046226500533E082-9536
chr132650107526501125E082-8944
chr132650113426501263E082-8806
chr132650135126501401E082-8668
chr132650149226501574E082-8495
chr132650165726502657E082-7412
chr132650299426503123E082-6946
chr132650318626503343E082-6726
chr132650335626503519E082-6550
chr132650402426504091E082-5978
chr132650417926504275E082-5794
chr132650664926506759E082-3310
chr132651917226519377E0829103
chr132651980226520058E0829733
chr132653760026538414E08227531