rs8024393

Homo sapiens
A>G
ATP8B4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0057 (1721/29962,GnomAD)
G=0079 (2300/29118,TOPMED)
G=0074 (372/5008,1000G)
G=0028 (109/3854,ALSPAC)
G=0029 (109/3708,TWINSUK)
chr15:50060690 (GRCh38.p7) (15q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.50060690A>G
GRCh37.p13 chr 15NC_000015.9:g.50352887A>G

Gene: ATP8B4, ATPase phospholipid transporting 8B4 (putative)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ATP8B4 transcript variant 1NM_024837.3:c.N/AIntron Variant
ATP8B4 transcript variant 2NR_073596.1:n.N/AIntron Variant
ATP8B4 transcript variant 3NR_073597.1:n.N/AIntron Variant
ATP8B4 transcript variant 4NR_073598.1:n.N/AIntron Variant
ATP8B4 transcript variant X1XM_011522046.2:c.N/AIntron Variant
ATP8B4 transcript variant X3XM_011522047.2:c.N/AIntron Variant
ATP8B4 transcript variant X4XM_011522048.1:c.N/AIntron Variant
ATP8B4 transcript variant X5XM_011522049.2:c.N/AIntron Variant
ATP8B4 transcript variant X11XM_011522051.2:c.N/AIntron Variant
ATP8B4 transcript variant X9XM_011522052.2:c.N/AIntron Variant
ATP8B4 transcript variant X8XM_011522053.1:c.N/AIntron Variant
ATP8B4 transcript variant X1XM_011522056.2:c.N/AIntron Variant
ATP8B4 transcript variant X17XM_011522058.2:c.N/AIntron Variant
ATP8B4 transcript variant X2XM_017022587.1:c.N/AIntron Variant
ATP8B4 transcript variant X3XM_017022588.1:c.N/AIntron Variant
ATP8B4 transcript variant X4XM_017022589.1:c.N/AIntron Variant
ATP8B4 transcript variant X10XM_017022590.1:c.N/AIntron Variant
ATP8B4 transcript variant X9XM_017022591.1:c.N/AIntron Variant
ATP8B4 transcript variant X12XM_017022592.1:c.N/AIntron Variant
ATP8B4 transcript variant X15XM_017022593.1:c.N/AIntron Variant
ATP8B4 transcript variant X14XM_017022594.1:c.N/AIntron Variant
ATP8B4 transcript variant X30XM_017022597.1:c.N/AIntron Variant
ATP8B4 transcript variant X31XM_017022598.1:c.N/AIntron Variant
ATP8B4 transcript variant X32XM_017022599.1:c.N/AIntron Variant
ATP8B4 transcript variant X16XM_011522059.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X17XM_011522060.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X18XM_011522061.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X20XM_011522062.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X21XM_011522063.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X26XM_011522064.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X27XM_011522069.2:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X29XM_011522070.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X21XM_017022595.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X25XM_017022596.1:c.N/AGenic Upstream Transcript Variant
ATP8B4 transcript variant X24XR_001751394.1:n.N/AIntron Variant
ATP8B4 transcript variant X25XR_001751395.1:n.N/AIntron Variant
ATP8B4 transcript variant X29XR_001751396.1:n.N/AIntron Variant
ATP8B4 transcript variant X33XR_001751397.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.843G=0.157
1000GenomesAmericanSub694A=0.960G=0.040
1000GenomesEast AsianSub1008A=0.969G=0.031
1000GenomesEuropeSub1006A=0.974G=0.026
1000GenomesGlobalStudy-wide5008A=0.926G=0.074
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.972G=0.028
The Genome Aggregation DatabaseAfricanSub8706A=0.870G=0.130
The Genome Aggregation DatabaseAmericanSub838A=0.960G=0.040
The Genome Aggregation DatabaseEast AsianSub1618A=0.958G=0.042
The Genome Aggregation DatabaseEuropeSub18498A=0.974G=0.025
The Genome Aggregation DatabaseGlobalStudy-wide29962A=0.942G=0.057
The Genome Aggregation DatabaseOtherSub302A=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.921G=0.079
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.971G=0.029
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs80243930.000335alcohol dependence21314694

eQTL of rs8024393 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 rs8024393 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 )
chr155034363050343709E067-9178
chr155034376650343816E067-9071
chr155034385850344524E067-8363
chr155035014750350950E067-1937
chr155034704250348377E068-4510
chr155035014750350950E068-1937
chr155034385850344524E069-8363
chr155035014750350950E069-1937
chr155034363050343709E071-9178
chr155034376650343816E071-9071
chr155034385850344524E071-8363
chr155034704250348377E071-4510
chr155034842950348514E071-4373
chr155035014750350950E071-1937
chr155035942050359785E0716533
chr155035994250359992E0717055
chr155035999550360062E0717108
chr155035014750350950E072-1937
chr155035014750350950E073-1937
chr155034376650343816E074-9071
chr155034385850344524E074-8363
chr155035014750350950E074-1937