SNP Detail Info-rs4908967

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.17733452C>A
GRCh37.p13 chr 3	NC_000003.11:g.17774944C>A

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

Molecule type	Change	Amino acid[Codon]	SO Term
TBC1D5 transcript variant 2	NM_014744.2:c.	N/A	Intron Variant
TBC1D5 transcript variant 1	NM_001134381.1:c.	N/A	Genic Upstream Transcript Variant
TBC1D5 transcript variant X4	XM_005265611.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X12	XM_005265612.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X15	XM_005265614.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X19	XM_005265615.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X22	XM_005265616.4:c.	N/A	Intron Variant
TBC1D5 transcript variant X3	XM_011534281.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X10	XM_011534283.2:c.	N/A	Intron Variant
TBC1D5 transcript variant X7	XM_011534284.2:c.	N/A	Intron Variant
TBC1D5 transcript variant X11	XM_011534286.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X20	XM_011534287.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X1	XM_017007552.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X2	XM_017007553.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X5	XM_017007554.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X7	XM_017007555.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X8	XM_017007556.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X16	XM_017007559.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X17	XM_017007560.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X18	XM_017007561.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X21	XM_017007562.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X24	XM_017007564.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X25	XM_017007565.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X26	XM_017007566.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X27	XM_017007567.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X5	XM_006713430.1:c.	N/A	Genic Upstream Transcript Variant
TBC1D5 transcript variant X10	XM_017007557.1:c.	N/A	Genic Upstream Transcript Variant
TBC1D5 transcript variant X14	XM_017007558.1:c.	N/A	Genic Upstream Transcript Variant
TBC1D5 transcript variant X23	XM_017007563.1:c.	N/A	Genic Upstream Transcript Variant
TBC1D5 transcript variant X12	XM_017007568.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.726	A=0.274
1000Genomes	American	Sub	694	C=0.370	A=0.630
1000Genomes	East Asian	Sub	1008	C=0.071	A=0.929
1000Genomes	Europe	Sub	1006	C=0.467	A=0.533
1000Genomes	Global	Study-wide	5008	C=0.425	A=0.575
1000Genomes	South Asian	Sub	978	C=0.380	A=0.620
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.465	A=0.535
The Genome Aggregation Database	African	Sub	8686	C=0.674	A=0.326
The Genome Aggregation Database	American	Sub	836	C=0.270	A=0.730
The Genome Aggregation Database	East Asian	Sub	1618	C=0.046	A=0.954
The Genome Aggregation Database	Europe	Sub	18454	C=0.465	A=0.534
The Genome Aggregation Database	Global	Study-wide	29896	C=0.497	A=0.502
The Genome Aggregation Database	Other	Sub	302	C=0.400	A=0.600
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.543	A=0.456
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.467	A=0.533

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs4908967	0.00073	alcohol dependence	20201924

eQTL of rs4908967 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 rs4908967 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr3	17771778	17771886	E067	-3058
chr3	17771955	17772104	E067	-2840
chr3	17772168	17772239	E067	-2705
chr3	17773109	17773159	E067	-1785
chr3	17780589	17780671	E067	5645
chr3	17780703	17780808	E067	5759
chr3	17727541	17727635	E068	-47309
chr3	17728241	17728377	E068	-46567
chr3	17780589	17780671	E068	5645
chr3	17780703	17780808	E068	5759
chr3	17786984	17787044	E068	12040
chr3	17794897	17795061	E068	19953
chr3	17795137	17795498	E068	20193
chr3	17786984	17787044	E069	12040
chr3	17801524	17801746	E071	26580
chr3	17786984	17787044	E072	12040
chr3	17794612	17794870	E072	19668
chr3	17794897	17795061	E072	19953
chr3	17795137	17795498	E072	20193
chr3	17801524	17801746	E072	26580
chr3	17727541	17727635	E074	-47309
chr3	17786984	17787044	E074	12040

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr3	17782115	17785004	E067	7171
chr3	17782115	17785004	E068	7171
chr3	17782115	17785004	E069	7171
chr3	17782115	17785004	E070	7171
chr3	17782115	17785004	E071	7171
chr3	17782115	17785004	E072	7171
chr3	17782115	17785004	E073	7171
chr3	17782115	17785004	E074	7171
chr3	17782115	17785004	E081	7171
chr3	17782115	17785004	E082	7171

rs4908967

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs4908967 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs4908967 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)