rs4728699

Homo sapiens
C>T
ABCB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0032 (958/29972,GnomAD)
C==0022 (663/29118,TOPMED)
C==0027 (133/5008,1000G)
C==0045 (172/3854,ALSPAC)
C==0041 (153/3708,TWINSUK)
chr7:87539433 (GRCh38.p7) (7q21.12)
AD
GWASdb2
2   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.87539433C>T
GRCh37.p13 chr 7NC_000007.13:g.87168749C>T
ABCB1 RefSeqGeneNG_011513.1:g.178816G>A

Gene: ABCB1, ATP-binding cassette, sub-family B (MDR/TAP), member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ABCB1 transcript variant 3NM_000927.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.001T=0.999
1000GenomesAmericanSub694C=0.030T=0.970
1000GenomesEast AsianSub1008C=0.003T=0.997
1000GenomesEuropeSub1006C=0.049T=0.951
1000GenomesGlobalStudy-wide5008C=0.027T=0.973
1000GenomesSouth AsianSub978C=0.060T=0.940
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.045T=0.955
The Genome Aggregation DatabaseAfricanSub8722C=0.008T=0.992
The Genome Aggregation DatabaseAmericanSub838C=0.030T=0.970
The Genome Aggregation DatabaseEast AsianSub1620C=0.000T=1.000
The Genome Aggregation DatabaseEuropeSub18490C=0.046T=0.953
The Genome Aggregation DatabaseGlobalStudy-wide29972C=0.032T=0.968
The Genome Aggregation DatabaseOtherSub302C=0.020T=0.980
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.022T=0.977
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.041T=0.959
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19916993A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans.Mukonzo JKBr J Clin Pharmacol

P-Value

SNP ID p-value Traits Study
rs47286990.00079alcohol dependence20201924

eQTL of rs4728699 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 rs4728699 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 )
chr78715923287159773E069-8976
chr78715439987154458E070-14291
chr78715923287159773E074-8976