SNP Detail Info-rs11128838

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.17655876G>A
GRCh37.p13 chr 3	NC_000003.11:g.17697368G>A

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 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	G=0.787	A=0.213
1000Genomes	American	Sub	694	G=0.380	A=0.620
1000Genomes	East Asian	Sub	1008	G=0.072	A=0.928
1000Genomes	Europe	Sub	1006	G=0.466	A=0.534
1000Genomes	Global	Study-wide	5008	G=0.443	A=0.557
1000Genomes	South Asian	Sub	978	G=0.380	A=0.620
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.466	A=0.534
The Genome Aggregation Database	African	Sub	8704	G=0.721	A=0.279
The Genome Aggregation Database	American	Sub	836	G=0.270	A=0.730
The Genome Aggregation Database	East Asian	Sub	1620	G=0.046	A=0.954
The Genome Aggregation Database	Europe	Sub	18470	G=0.467	A=0.533
The Genome Aggregation Database	Global	Study-wide	29932	G=0.512	A=0.487
The Genome Aggregation Database	Other	Sub	302	G=0.420	A=0.580
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.564	A=0.435
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=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
rs11128838	0.000979	alcohol dependence	20201924

eQTL of rs11128838 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 rs11128838 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	17681333	17681527	E067	-15841
chr3	17707090	17707172	E067	9722
chr3	17712232	17712295	E067	14864
chr3	17712381	17712560	E067	15013
chr3	17668042	17668157	E068	-29211
chr3	17712232	17712295	E068	14864
chr3	17712381	17712560	E068	15013
chr3	17727541	17727635	E068	30173
chr3	17728241	17728377	E068	30873
chr3	17668042	17668157	E069	-29211
chr3	17706400	17706772	E069	9032
chr3	17707090	17707172	E069	9722
chr3	17707228	17707335	E069	9860
chr3	17712232	17712295	E069	14864
chr3	17712381	17712560	E069	15013
chr3	17686652	17686997	E070	-10371
chr3	17666229	17666279	E071	-31089
chr3	17666670	17666778	E071	-30590
chr3	17668042	17668157	E071	-29211
chr3	17668688	17668786	E071	-28582
chr3	17686486	17686544	E071	-10824
chr3	17706400	17706772	E071	9032
chr3	17707090	17707172	E071	9722
chr3	17712232	17712295	E071	14864
chr3	17712381	17712560	E071	15013
chr3	17665130	17665204	E072	-32164
chr3	17668042	17668157	E072	-29211
chr3	17712232	17712295	E072	14864
chr3	17712381	17712560	E072	15013
chr3	17712232	17712295	E073	14864
chr3	17712381	17712560	E073	15013
chr3	17665130	17665204	E074	-32164
chr3	17668042	17668157	E074	-29211
chr3	17673920	17674277	E074	-23091
chr3	17674321	17674437	E074	-22931
chr3	17706400	17706772	E074	9032
chr3	17707090	17707172	E074	9722
chr3	17707228	17707335	E074	9860
chr3	17712232	17712295	E074	14864
chr3	17712381	17712560	E074	15013
chr3	17727541	17727635	E074	30173

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr3	17714072	17714321	E069	16704
chr3	17714072	17714321	E071	16704
chr3	17714072	17714321	E072	16704
chr3	17714072	17714321	E074	16704

rs11128838

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs11128838 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs11128838 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)