SNP Detail Info-rs1352010

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.56152208A>G
GRCh37.p13 chr 3	NC_000003.11:g.56186236A>G

Molecule type	Change	Amino acid[Codon]	SO Term
ERC2 transcript variant 1	NM_015576.2:c.	N/A	Intron Variant
ERC2 transcript variant 2	NR_132749.1:n.	N/A	Intron Variant
ERC2 transcript variant X1	XM_017006138.1:c.	N/A	Intron Variant
ERC2 transcript variant X2	XM_017006139.1:c.	N/A	Intron Variant
ERC2 transcript variant X3	XM_017006140.1:c.	N/A	Intron Variant
ERC2 transcript variant X4	XM_017006141.1:c.	N/A	Intron Variant
ERC2 transcript variant X6	XM_017006142.1:c.	N/A	Intron Variant
ERC2 transcript variant X7	XM_017006143.1:c.	N/A	Intron Variant
ERC2 transcript variant X8	XM_017006144.1:c.	N/A	Intron Variant
ERC2 transcript variant X9	XM_017006145.1:c.	N/A	Intron Variant
ERC2 transcript variant X10	XM_017006146.1:c.	N/A	Intron Variant
ERC2 transcript variant X11	XM_017006147.1:c.	N/A	Intron Variant
ERC2 transcript variant X12	XM_017006148.1:c.	N/A	Intron Variant
ERC2 transcript variant X13	XM_017006149.1:c.	N/A	Intron Variant
ERC2 transcript variant X14	XM_017006150.1:c.	N/A	Intron Variant
ERC2 transcript variant X15	XM_017006151.1:c.	N/A	Intron Variant
ERC2 transcript variant X16	XM_017006152.1:c.	N/A	Intron Variant
ERC2 transcript variant X17	XM_017006153.1:c.	N/A	Intron Variant
ERC2 transcript variant X18	XM_017006154.1:c.	N/A	Intron Variant
ERC2 transcript variant X19	XM_017006155.1:c.	N/A	Intron Variant
ERC2 transcript variant X20	XM_017006156.1:c.	N/A	Intron Variant
ERC2 transcript variant X21	XM_017006157.1:c.	N/A	Intron Variant
ERC2 transcript variant X22	XM_017006158.1:c.	N/A	Intron Variant
ERC2 transcript variant X23	XM_017006159.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.856	G=0.144
1000Genomes	American	Sub	694	A=0.780	G=0.220
1000Genomes	East Asian	Sub	1008	A=0.863	G=0.137
1000Genomes	Europe	Sub	1006	A=0.954	G=0.046
1000Genomes	Global	Study-wide	5008	A=0.888	G=0.112
1000Genomes	South Asian	Sub	978	A=0.960	G=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.943	G=0.057
The Genome Aggregation Database	African	Sub	8720	A=0.881	G=0.119
The Genome Aggregation Database	American	Sub	838	A=0.820	G=0.180
The Genome Aggregation Database	East Asian	Sub	1602	A=0.841	G=0.159
The Genome Aggregation Database	Europe	Sub	18496	A=0.956	G=0.043
The Genome Aggregation Database	Global	Study-wide	29958	A=0.924	G=0.075
The Genome Aggregation Database	Other	Sub	302	A=0.970	G=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.910	G=0.089
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.940	G=0.060

PMID	Title	Author	Journal
24166409	Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.	Gelernter J	Mol Psychiatry

SNP ID	p-value	Traits	Study
rs1352010	9E-06	alcohol dependence	24166409

eQTL of rs1352010 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr3:56186236	ERC2	ENSG00000187672.8	A>G	1.4511e-8	-316155	Cerebellum
Chr3:56186236	WNT5A	ENSG00000114251.9	A>G	1.3464e-4	662263	Cerebellar_Hemisphere
Chr3:56186236	ERC2	ENSG00000187672.8	A>G	1.4171e-9	-316155	Cerebellar_Hemisphere

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr3	56145027	56145233	E070	-41003
chr3	56145465	56145549	E070	-40687
chr3	56145596	56146036	E070	-40200
chr3	56146103	56146257	E070	-39979
chr3	56148086	56148240	E070	-37996
chr3	56148360	56148420	E070	-37816
chr3	56171592	56171795	E070	-14441
chr3	56145596	56146036	E071	-40200
chr3	56145027	56145233	E081	-41003
chr3	56148086	56148240	E082	-37996
chr3	56148360	56148420	E082	-37816

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr3	56207621	56207671	E067	21385
chr3	56207768	56207978	E067	21532
chr3	56207621	56207671	E068	21385
chr3	56207768	56207978	E068	21532
chr3	56207621	56207671	E072	21385
chr3	56207768	56207978	E072	21532
chr3	56207621	56207671	E073	21385
chr3	56207768	56207978	E073	21532

rs1352010