rs6756540

Homo sapiens
G>T
ABCA12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0496 (14787/29810,GnomAD)
G==0483 (14067/29118,TOPMED)
T=0450 (2252/5008,1000G)
T=0492 (1896/3854,ALSPAC)
G==0492 (1826/3708,TWINSUK)
chr2:214968898 (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.214968898G>T
GRCh37.p13 chr 2NC_000002.11:g.215833622G>T
ABCA12 RefSeqGeneNG_007074.1:g.174530C>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
1000GenomesAfricanSub1322G=0.464T=0.536
1000GenomesAmericanSub694G=0.490T=0.510
1000GenomesEast AsianSub1008G=0.773T=0.227
1000GenomesEuropeSub1006G=0.513T=0.487
1000GenomesGlobalStudy-wide5008G=0.550T=0.450
1000GenomesSouth AsianSub978G=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.508T=0.492
The Genome Aggregation DatabaseAfricanSub8686G=0.487T=0.513
The Genome Aggregation DatabaseAmericanSub832G=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1604G=0.767T=0.233
The Genome Aggregation DatabaseEuropeSub18386G=0.477T=0.522
The Genome Aggregation DatabaseGlobalStudy-wide29810G=0.496T=0.504
The Genome Aggregation DatabaseOtherSub302G=0.500T=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.483T=0.516
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.492T=0.508
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
rs67565400.00061alcohol dependence20201924

eQTL of rs6756540 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 rs6756540 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 )
chr2215867838215868029E06734216
chr2215867223215867698E06833601
chr2215867838215868029E06834216
chr2215867223215867698E07033601
chr2215867838215868029E07034216
chr2215867223215867698E07233601
chr2215867838215868029E07234216
chr2215867223215867698E07333601
chr2215867838215868029E07334216
chr2215867223215867698E08133601
chr2215867838215868029E08134216
chr2215867223215867698E08233601
chr2215867838215868029E08234216
chr2215870072215870178E08236450