rs3795857

Homo sapiens
A>G / A>T
ABCA12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0499 (14902/29840,GnomAD)
A==0494 (14409/29118,TOPMED)
G=0452 (2266/5008,1000G)
G=0498 (1919/3854,ALSPAC)
A==0486 (1801/3708,TWINSUK)
chr2:214969952 (GRCh38.p7) (2q35)
AD
GWASdb2
1   publication(s)
See rs on genome
95 Enhancers around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.214969952A>G
GRCh38.p7 chr 2NC_000002.12:g.214969952A>T
GRCh37.p13 chr 2NC_000002.11:g.215834676A>G
GRCh37.p13 chr 2NC_000002.11:g.215834676A>T
ABCA12 RefSeqGeneNG_007074.1:g.173476T>C
ABCA12 RefSeqGeneNG_007074.1:g.173476T>A

Gene: ABCA12, ATP binding cassette subfamily A member 12(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ABCA12 transcript variant 2NM_015657.3:c.N/AIntron Variant
ABCA12 transcript variant 1NM_173076.2:c.N/AIntron Variant
ABCA12 transcript variant 3NR_103740.1:n.N/AIntron Variant
ABCA12 transcript variant X1XM_011510951.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.502G=0.498
1000GenomesAmericanSub694A=0.490G=0.510
1000GenomesEast AsianSub1008A=0.750G=0.250
1000GenomesEuropeSub1006A=0.513G=0.487
1000GenomesGlobalStudy-wide5008A=0.548G=0.452
1000GenomesSouth AsianSub978A=0.480G=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.502G=0.498
The Genome Aggregation DatabaseAfricanSub8704A=0.519G=0.481
The Genome Aggregation DatabaseAmericanSub832A=0.480G=0.520
The Genome Aggregation DatabaseEast AsianSub1612A=0.735G=0.265
The Genome Aggregation DatabaseEuropeSub18392A=0.470G=0.529
The Genome Aggregation DatabaseGlobalStudy-wide29840A=0.499G=0.500
The Genome Aggregation DatabaseOtherSub300A=0.510G=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.494G=0.505
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.486G=0.514
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs37958570.00031alcohol dependence20201924

eQTL of rs3795857 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 rs3795857 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 )
chr2121198772121198836E067-19736
chr2121204825121204967E067-13605
chr2121224337121224498E0675765
chr2121267939121267999E06749367
chr2121198982121199234E068-19338
chr2121203923121204239E068-14333
chr2121204825121204967E068-13605
chr2121223320121224311E0684748
chr2121224337121224498E0685765
chr2121227594121228607E0689022
chr2121228857121228961E06810285
chr2121229132121229186E06810560
chr2121267939121267999E06849367
chr2121176634121176905E069-41667
chr2121176935121177051E069-41521
chr2121198772121198836E069-19736
chr2121198863121198952E069-19620
chr2121198982121199234E069-19338
chr2121203106121203291E069-15281
chr2121203923121204239E069-14333
chr2121204825121204967E069-13605
chr2121176634121176905E070-41667
chr2121176935121177051E070-41521
chr2121198772121198836E070-19736
chr2121198863121198952E070-19620
chr2121198982121199234E070-19338
chr2121212198121212613E070-5959
chr2121212661121212906E070-5666
chr2121222446121222496E0703874
chr2121223320121224311E0704748
chr2121224337121224498E0705765
chr2121261533121262094E07042961
chr2121266062121266117E07047490
chr2121266137121266300E07047565
chr2121266446121266573E07047874
chr2121266936121266990E07048364
chr2121266995121267049E07048423
chr2121267595121267893E07049023
chr2121267939121267999E07049367
chr2121198772121198836E071-19736
chr2121198863121198952E071-19620
chr2121198982121199234E071-19338
chr2121203923121204239E071-14333
chr2121223320121224311E0714748
chr2121224337121224498E0715765
chr2121227594121228607E0719022
chr2121266137121266300E07147565
chr2121266446121266573E07147874
chr2121198772121198836E072-19736
chr2121198863121198952E072-19620
chr2121198982121199234E072-19338
chr2121203923121204239E072-14333
chr2121204825121204967E072-13605
chr2121223320121224311E0724748
chr2121224337121224498E0725765
chr2121267595121267893E07349023
chr2121198772121198836E074-19736
chr2121198863121198952E074-19620
chr2121198982121199234E074-19338
chr2121203923121204239E074-14333
chr2121204825121204967E074-13605
chr2121223320121224311E0744748
chr2121224337121224498E0745765
chr2121227594121228607E0749022
chr2121174553121175108E081-43464
chr2121175174121175272E081-43300
chr2121176634121176905E081-41667
chr2121176935121177051E081-41521
chr2121192225121192544E081-26028
chr2121192664121192767E081-25805
chr2121198772121198836E081-19736
chr2121198863121198952E081-19620
chr2121198982121199234E081-19338
chr2121212198121212613E081-5959
chr2121212661121212906E081-5666
chr2121213052121213214E081-5358
chr2121223320121224311E0814748
chr2121227594121228607E0819022
chr2121261533121262094E08142961
chr2121267595121267893E08149023
chr2121267939121267999E08149367
chr2121176634121176905E082-41667
chr2121176935121177051E082-41521
chr2121179485121179540E082-39032
chr2121187554121187716E082-30856
chr2121187808121187992E082-30580
chr2121188057121188144E082-30428
chr2121192225121192544E082-26028
chr2121192664121192767E082-25805
chr2121198772121198836E082-19736
chr2121198863121198952E082-19620
chr2121198982121199234E082-19338
chr2121223320121224311E0824748
chr2121227594121228607E0829022
chr2121261533121262094E08242961










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2121199404121199547E067-19025
chr2121199556121201187E067-17385
chr2121199404121199547E068-19025
chr2121199556121201187E068-17385
chr2121199404121199547E069-19025
chr2121199404121199547E070-19025
chr2121199556121201187E070-17385
chr2121199556121201187E073-17385
chr2121199404121199547E074-19025
chr2121199404121199547E082-19025
chr2121199556121201187E082-17385