SNP Detail Info-rs12135445

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.239579957G>A
GRCh37.p13 chr 1	NC_000001.10:g.239743257G>A

Molecule type	Change	Amino acid[Codon]	SO Term
CHRM3 transcript	NM_000740.2:c.	N/A	Genic Upstream Transcript Variant
CHRM3 transcript variant X8	XM_005273032.3:c.	N/A	Intron Variant
CHRM3 transcript variant X1	XM_011544041.2:c.	N/A	Intron Variant
CHRM3 transcript variant X4	XM_011544043.2:c.	N/A	Intron Variant
CHRM3 transcript variant X5	XM_011544044.2:c.	N/A	Intron Variant
CHRM3 transcript variant X5	XM_011544045.2:c.	N/A	Intron Variant
CHRM3 transcript variant X6	XM_011544046.2:c.	N/A	Intron Variant
CHRM3 transcript variant X10	XM_011544047.2:c.	N/A	Intron Variant
CHRM3 transcript variant X2	XM_017000152.1:c.	N/A	Intron Variant
CHRM3 transcript variant X3	XM_017000153.1:c.	N/A	Intron Variant
CHRM3 transcript variant X9	XM_017000154.1:c.	N/A	Intron Variant
CHRM3 transcript variant X7	XM_017000155.1:c.	N/A	Intron Variant
CHRM3 transcript variant X11	XM_017000156.1:c.	N/A	Intron Variant
CHRM3 transcript variant X13	XM_017000158.1:c.	N/A	Intron Variant
CHRM3 transcript variant X14	XM_017000159.1:c.	N/A	Intron Variant
CHRM3 transcript variant X16	XM_017000161.1:c.	N/A	Intron Variant
CHRM3 transcript variant X17	XM_017000162.1:c.	N/A	Intron Variant
CHRM3 transcript variant X13	XM_017000157.1:c.	N/A	Genic Upstream Transcript Variant
CHRM3 transcript variant X16	XM_017000160.1:c.	N/A	Genic Upstream Transcript Variant
CHRM3 transcript variant X19	XM_017000163.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.992	A=0.008
1000Genomes	American	Sub	694	G=0.890	A=0.110
1000Genomes	East Asian	Sub	1008	G=0.880	A=0.120
1000Genomes	Europe	Sub	1006	G=0.821	A=0.179
1000Genomes	Global	Study-wide	5008	G=0.889	A=0.111
1000Genomes	South Asian	Sub	978	G=0.830	A=0.170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.835	A=0.165
The Genome Aggregation Database	African	Sub	8722	G=0.968	A=0.032
The Genome Aggregation Database	American	Sub	836	G=0.910	A=0.090
The Genome Aggregation Database	East Asian	Sub	1608	G=0.886	A=0.114
The Genome Aggregation Database	Europe	Sub	18464	G=0.816	A=0.183
The Genome Aggregation Database	Global	Study-wide	29930	G=0.867	A=0.132
The Genome Aggregation Database	Other	Sub	300	G=0.880	A=0.120
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.901	A=0.098
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.836	A=0.164

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

SNP ID	p-value	Traits	Study
rs12135445	0.000471	alcohol dependence	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	239754015	239754385	E072	10758
chr1	239754562	239754754	E072	11305
chr1	239701234	239701376	E081	-41881
chr1	239701435	239701817	E081	-41440
chr1	239701875	239701936	E081	-41321
chr1	239702132	239702176	E081	-41081
chr1	239702188	239702228	E081	-41029
chr1	239754562	239754754	E081	11305

rs12135445