SNP Detail Info-rs9823767

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.17574245A>G
GRCh37.p13 chr 3	NC_000003.11:g.17615737A>G

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

Molecule type	Change	Amino acid[Codon]	SO Term
TBC1D5 transcript variant 1	NM_001134381.1:c.	N/A	Intron Variant
TBC1D5 transcript variant 2	NM_014744.2:c.	N/A	Intron 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 X5	XM_006713430.1: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 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	A=0.258	G=0.742
1000Genomes	American	Sub	694	A=0.630	G=0.370
1000Genomes	East Asian	Sub	1008	A=0.929	G=0.071
1000Genomes	Europe	Sub	1006	A=0.532	G=0.468
1000Genomes	Global	Study-wide	5008	A=0.571	G=0.429
1000Genomes	South Asian	Sub	978	A=0.620	G=0.380
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.536	G=0.464
The Genome Aggregation Database	African	Sub	8678	A=0.307	G=0.693
The Genome Aggregation Database	American	Sub	834	A=0.730	G=0.270
The Genome Aggregation Database	East Asian	Sub	1596	A=0.954	G=0.046
The Genome Aggregation Database	Europe	Sub	18430	A=0.534	G=0.465
The Genome Aggregation Database	Global	Study-wide	29838	A=0.496	G=0.503
The Genome Aggregation Database	Other	Sub	300	A=0.590	G=0.410
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.449	G=0.550
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.533	G=0.467

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
rs9823767	0.000817	alcohol dependence	20201924

eQTL of rs9823767 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 rs9823767 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	17576779	17576851	E067	-38886
chr3	17619421	17619525	E067	3684
chr3	17619682	17619925	E067	3945
chr3	17575959	17576230	E068	-39507
chr3	17592607	17592734	E068	-23003
chr3	17592881	17593047	E068	-22690
chr3	17593090	17593227	E068	-22510
chr3	17593863	17594040	E068	-21697
chr3	17594087	17594141	E068	-21596
chr3	17593863	17594040	E069	-21697
chr3	17594087	17594141	E069	-21596
chr3	17594426	17594476	E069	-21261
chr3	17594571	17594968	E069	-20769
chr3	17595137	17595202	E069	-20535
chr3	17592881	17593047	E071	-22690
chr3	17593090	17593227	E071	-22510
chr3	17594426	17594476	E071	-21261
chr3	17594571	17594968	E071	-20769
chr3	17619421	17619525	E071	3684
chr3	17619682	17619925	E071	3945
chr3	17575959	17576230	E072	-39507
chr3	17576779	17576851	E072	-38886
chr3	17592607	17592734	E072	-23003
chr3	17592881	17593047	E072	-22690
chr3	17593090	17593227	E072	-22510
chr3	17594426	17594476	E072	-21261
chr3	17594571	17594968	E072	-20769
chr3	17595137	17595202	E072	-20535
chr3	17665130	17665204	E072	49393
chr3	17576779	17576851	E074	-38886
chr3	17592881	17593047	E074	-22690
chr3	17593090	17593227	E074	-22510
chr3	17593863	17594040	E074	-21697
chr3	17594087	17594141	E074	-21596
chr3	17594426	17594476	E074	-21261
chr3	17594571	17594968	E074	-20769
chr3	17595137	17595202	E074	-20535
chr3	17619421	17619525	E074	3684
chr3	17619682	17619925	E074	3945
chr3	17665130	17665204	E074	49393
chr3	17576779	17576851	E081	-38886
chr3	17576897	17577214	E081	-38523
chr3	17594426	17594476	E082	-21261
chr3	17594571	17594968	E082	-20769

rs9823767

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs9823767 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs9823767 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)