rs7647905

Homo sapiens
T>C
TBC1D5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0496 (14817/29870,GnomAD)
T==0449 (13080/29118,TOPMED)
C=0429 (2149/5008,1000G)
C=0459 (1770/3854,ALSPAC)
C=0459 (1703/3708,TWINSUK)
chr3:17391891 (GRCh38.p7) (3p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
12 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.17391891T>C
GRCh37.p13 chr 3NC_000003.11:g.17433383T>C

Gene: TBC1D5, TBC1 domain family member 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TBC1D5 transcript variant 1NM_001134381.1:c.N/AIntron Variant
TBC1D5 transcript variant 2NM_014744.2:c.N/AIntron Variant
TBC1D5 transcript variant X4XM_005265611.1:c.N/AIntron Variant
TBC1D5 transcript variant X12XM_005265612.1:c.N/AIntron Variant
TBC1D5 transcript variant X15XM_005265614.1:c.N/AIntron Variant
TBC1D5 transcript variant X19XM_005265615.1:c.N/AIntron Variant
TBC1D5 transcript variant X22XM_005265616.4:c.N/AIntron Variant
TBC1D5 transcript variant X5XM_006713430.1:c.N/AIntron Variant
TBC1D5 transcript variant X3XM_011534281.1:c.N/AIntron Variant
TBC1D5 transcript variant X10XM_011534283.2:c.N/AIntron Variant
TBC1D5 transcript variant X7XM_011534284.2:c.N/AIntron Variant
TBC1D5 transcript variant X11XM_011534286.1:c.N/AIntron Variant
TBC1D5 transcript variant X20XM_011534287.1:c.N/AIntron Variant
TBC1D5 transcript variant X1XM_017007552.1:c.N/AIntron Variant
TBC1D5 transcript variant X2XM_017007553.1:c.N/AIntron Variant
TBC1D5 transcript variant X5XM_017007554.1:c.N/AIntron Variant
TBC1D5 transcript variant X7XM_017007555.1:c.N/AIntron Variant
TBC1D5 transcript variant X8XM_017007556.1:c.N/AIntron Variant
TBC1D5 transcript variant X10XM_017007557.1:c.N/AIntron Variant
TBC1D5 transcript variant X14XM_017007558.1:c.N/AIntron Variant
TBC1D5 transcript variant X16XM_017007559.1:c.N/AIntron Variant
TBC1D5 transcript variant X17XM_017007560.1:c.N/AIntron Variant
TBC1D5 transcript variant X18XM_017007561.1:c.N/AIntron Variant
TBC1D5 transcript variant X21XM_017007562.1:c.N/AIntron Variant
TBC1D5 transcript variant X23XM_017007563.1:c.N/AIntron Variant
TBC1D5 transcript variant X24XM_017007564.1:c.N/AIntron Variant
TBC1D5 transcript variant X25XM_017007565.1:c.N/AIntron Variant
TBC1D5 transcript variant X26XM_017007566.1:c.N/AIntron Variant
TBC1D5 transcript variant X27XM_017007567.1:c.N/AIntron Variant
TBC1D5 transcript variant X12XM_017007568.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.244C=0.756
1000GenomesAmericanSub694T=0.640C=0.360
1000GenomesEast AsianSub1008T=0.929C=0.071
1000GenomesEuropeSub1006T=0.543C=0.457
1000GenomesGlobalStudy-wide5008T=0.571C=0.429
1000GenomesSouth AsianSub978T=0.620C=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.541C=0.459
The Genome Aggregation DatabaseAfricanSub8700T=0.301C=0.699
The Genome Aggregation DatabaseAmericanSub834T=0.730C=0.270
The Genome Aggregation DatabaseEast AsianSub1586T=0.954C=0.046
The Genome Aggregation DatabaseEuropeSub18448T=0.536C=0.463
The Genome Aggregation DatabaseGlobalStudy-wide29870T=0.496C=0.504
The Genome Aggregation DatabaseOtherSub302T=0.610C=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.449C=0.550
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.541C=0.459
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
rs76479050.000647alcohol dependence20201924

eQTL of rs7647905 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 rs7647905 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 )
chr31745313217453186E06719749
chr31747210517472339E06938722
chr31747259117472786E06939208
chr31747328017473382E06939897
chr31744865317448771E07015270
chr31747210517472339E07138722
chr31747259117472786E07139208
chr31747328017473382E07139897
chr31747388617473978E07140503
chr31747388617473978E07240503
chr31747437717474473E07440994
chr31744865317448771E08215270