SNP Detail Info-rs12080951

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.239615360C>T
GRCh37.p13 chr 1	NC_000001.10:g.239778660C>T

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_017000157.1: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 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

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105373225 transcript variant X1	XR_001738554.1:n.	N/A	Intron Variant
LOC105373225 transcript variant X2	XR_001738555.1:n.	N/A	Intron Variant
LOC105373225 transcript variant X3	XR_001738556.1:n.	N/A	Intron Variant
LOC105373225 transcript variant X4	XR_001738557.1:n.	N/A	Intron Variant
LOC105373225 transcript variant X5	XR_001738558.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.728	T=0.272
1000Genomes	American	Sub	694	C=0.860	T=0.140
1000Genomes	East Asian	Sub	1008	C=0.938	T=0.062
1000Genomes	Europe	Sub	1006	C=0.797	T=0.203
1000Genomes	Global	Study-wide	5008	C=0.839	T=0.161
1000Genomes	South Asian	Sub	978	C=0.920	T=0.080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.788	T=0.212
The Genome Aggregation Database	African	Sub	8688	C=0.723	T=0.277
The Genome Aggregation Database	American	Sub	836	C=0.890	T=0.110
The Genome Aggregation Database	East Asian	Sub	1618	C=0.931	T=0.069
The Genome Aggregation Database	Europe	Sub	18444	C=0.777	T=0.222
The Genome Aggregation Database	Global	Study-wide	29888	C=0.772	T=0.227
The Genome Aggregation Database	Other	Sub	302	C=0.790	T=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.783	T=0.216
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.780	T=0.220

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
rs12080951	0.000264	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	239818377	239818481	E070	39717
chr1	239818511	239818621	E070	39851
chr1	239754015	239754385	E072	-24275
chr1	239754562	239754754	E072	-23906
chr1	239754562	239754754	E081	-23906

rs12080951