rs7594021

Homo sapiens
A>G
ABCA12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0390 (11355/29118,TOPMED)
G=0349 (1750/5008,1000G)
G=0492 (1898/3854,ALSPAC)
G=0499 (1851/3708,TWINSUK)
chr2:214976105 (GRCh38.p7) (2q35)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.214976105A>G
GRCh37.p13 chr 2NC_000002.11:g.215840829A>G
ABCA12 RefSeqGeneNG_007074.1:g.167323T>C

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=0.807G=0.193
1000GenomesAmericanSub694A=0.620G=0.380
1000GenomesEast AsianSub1008A=0.742G=0.258
1000GenomesEuropeSub1006A=0.509G=0.491
1000GenomesGlobalStudy-wide5008A=0.651G=0.349
1000GenomesSouth AsianSub978A=0.510G=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.508G=0.492
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.610G=0.390
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.501G=0.499
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
rs75940210.00098alcohol dependence20201924

eQTL of rs7594021 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 rs7594021 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 )
chr2215867838215868029E06727009
chr2215867223215867698E06826394
chr2215867838215868029E06827009
chr2215867223215867698E07026394
chr2215867838215868029E07027009
chr2215867223215867698E07226394
chr2215867838215868029E07227009
chr2215867223215867698E07326394
chr2215867838215868029E07327009
chr2215867223215867698E08126394
chr2215867838215868029E08127009
chr2215867223215867698E08226394
chr2215867838215868029E08227009
chr2215870072215870178E08229243