rs17685787

Homo sapiens
A>G
ATP8A2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0110 (3312/29888,GnomAD)
G=0110 (3211/29116,TOPMED)
G=0114 (569/5008,1000G)
G=0111 (428/3854,ALSPAC)
G=0116 (431/3708,TWINSUK)
chr13:25688042 (GRCh38.p7) (13q12.13)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.25688042A>G
ATP8A2 RefSeqGeneNG_042855.1:g.321032A>G
GRCh38.p7 chr 13 alt locus HSCHR13_1_CTG2NT_187593.1:g.144626T>C
GRCh37.p13 chr 13NC_000013.10:g.26262180A>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 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/AIntron 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=0.905G=0.095
1000GenomesAmericanSub694A=0.940G=0.060
1000GenomesEast AsianSub1008A=0.758G=0.242
1000GenomesEuropeSub1006A=0.899G=0.101
1000GenomesGlobalStudy-wide5008A=0.886G=0.114
1000GenomesSouth AsianSub978A=0.940G=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.889G=0.111
The Genome Aggregation DatabaseAfricanSub8710A=0.912G=0.088
The Genome Aggregation DatabaseAmericanSub838A=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1594A=0.745G=0.255
The Genome Aggregation DatabaseEuropeSub18446A=0.888G=0.111
The Genome Aggregation DatabaseGlobalStudy-wide29888A=0.889G=0.110
The Genome Aggregation DatabaseOtherSub300A=0.970G=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.889G=0.110
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.884G=0.116
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
rs176857870.000725alcohol dependence21314694

eQTL of rs17685787 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 rs17685787 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 )
chr132626591026266066E0703730
chr132626612926266755E0703949
chr132628179126281855E07019611
chr132628194926282160E07019769
chr132628220926282300E07020029
chr132630103926301102E07038859
chr132630123126301281E07039051
chr132630129626301362E07039116
chr132630147926301758E07039299
chr132631158626311636E07049406
chr132626139926262359E0730
chr132623323626233564E081-28616
chr132623357326233805E081-28375
chr132626139926262359E0810
chr132626258426262656E081404
chr132626266126263075E081481
chr132628194926282160E08119769
chr132628220926282300E08120029
chr132630577826306350E08143598
chr132626591026266066E0823730
chr132626612926266755E0823949
chr132630559726305667E08243417
chr132630577826306350E08243598