SNP Detail Info-rs1374197

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.17353123A>G
GRCh37.p13 chr 3	NC_000003.11:g.17394615A>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 X10	XM_017007557.1:c.	N/A	Intron Variant
TBC1D5 transcript variant X14	XM_017007558.1: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 X23	XM_017007563.1: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 X12	XM_017007568.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.254	G=0.746
1000Genomes	American	Sub	694	A=0.630	G=0.370
1000Genomes	East Asian	Sub	1008	A=0.921	G=0.079
1000Genomes	Europe	Sub	1006	A=0.528	G=0.472
1000Genomes	Global	Study-wide	5008	A=0.567	G=0.433
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=0.521	G=0.479
The Genome Aggregation Database	African	Sub	8698	A=0.311	G=0.689
The Genome Aggregation Database	American	Sub	836	A=0.730	G=0.270
The Genome Aggregation Database	East Asian	Sub	1610	A=0.947	G=0.053
The Genome Aggregation Database	Europe	Sub	18426	A=0.518	G=0.481
The Genome Aggregation Database	Global	Study-wide	29868	A=0.487	G=0.512
The Genome Aggregation Database	Other	Sub	298	A=0.600	G=0.400
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.438	G=0.561
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.523	G=0.477

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
rs1374197	0.000591	alcohol dependence	20201924

eQTL of rs1374197 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 rs1374197 in Fetal Brain

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr3	17345743	17345846	E067	-48769
chr3	17345448	17345498	E068	-49117
chr3	17346623	17346673	E069	-47942
chr3	17346698	17346743	E069	-47872
chr3	17345448	17345498	E072	-49117
chr3	17345743	17345846	E072	-48769
chr3	17346623	17346673	E072	-47942
chr3	17346698	17346743	E072	-47872
chr3	17346623	17346673	E073	-47942
chr3	17346698	17346743	E073	-47872
chr3	17345448	17345498	E074	-49117
chr3	17345743	17345846	E074	-48769

rs1374197

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs1374197 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1374197 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)