SNP Detail Info-rs7717384

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.119145510G>A
GRCh37.p13 chr 5	NC_000005.9:g.118481205G>A

Molecule type	Change	Amino acid[Codon]	SO Term
DMXL1 transcript variant 1	NM_001290321.2:c.	N/A	Intron Variant
DMXL1 transcript variant 3	NM_001290322.2:c.	N/A	Intron Variant
DMXL1 transcript variant 2	NM_005509.5:c.	N/A	Intron Variant
DMXL1 transcript variant X2	XM_005271909.4:c.	N/A	Intron Variant
DMXL1 transcript variant X4	XM_005271910.4:c.	N/A	Intron Variant
DMXL1 transcript variant X5	XM_005271912.2:c.	N/A	Intron Variant
DMXL1 transcript variant X1	XM_011543212.2:c.	N/A	Intron Variant
DMXL1 transcript variant X3	XM_011543213.2:c.	N/A	Intron Variant
DMXL1 transcript variant X12	XM_011543214.2:c.	N/A	Intron Variant
DMXL1 transcript variant X13	XM_011543215.2:c.	N/A	Intron Variant
DMXL1 transcript variant X5	XM_017009141.1:c.	N/A	Intron Variant
DMXL1 transcript variant X6	XM_017009142.1:c.	N/A	Intron Variant
DMXL1 transcript variant X6	XM_017009143.1:c.	N/A	Intron Variant
DMXL1 transcript variant X7	XM_017009144.1:c.	N/A	Intron Variant
DMXL1 transcript variant X8	XM_017009145.1:c.	N/A	Intron Variant
DMXL1 transcript variant X9	XM_017009146.1:c.	N/A	Intron Variant
DMXL1 transcript variant X10	XM_017009147.1:c.	N/A	Intron Variant
DMXL1 transcript variant X11	XM_017009148.1:c.	N/A	Intron Variant
DMXL1 transcript variant X17	XR_001742026.1:n.	N/A	Intron Variant
DMXL1 transcript variant X18	XR_001742027.1:n.	N/A	Intron Variant
DMXL1 transcript variant X14	XR_948239.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.874	A=0.126
1000Genomes	American	Sub	694	G=0.730	A=0.270
1000Genomes	East Asian	Sub	1008	G=0.454	A=0.546
1000Genomes	Europe	Sub	1006	G=0.755	A=0.245
1000Genomes	Global	Study-wide	5008	G=0.730	A=0.270
1000Genomes	South Asian	Sub	978	G=0.800	A=0.200
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.760	A=0.240
The Genome Aggregation Database	African	Sub	8710	G=0.866	A=0.134
The Genome Aggregation Database	American	Sub	828	G=0.730	A=0.270
The Genome Aggregation Database	East Asian	Sub	1594	G=0.464	A=0.536
The Genome Aggregation Database	Europe	Sub	18366	G=0.750	A=0.249
The Genome Aggregation Database	Global	Study-wide	29800	G=0.768	A=0.231
The Genome Aggregation Database	Other	Sub	302	G=0.760	A=0.240
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.807	A=0.192
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.764	A=0.236

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
rs7717384	0.000568	alcohol consumption (maxi-drinks)	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 )
chr5	118441717	118441957	E069	-39248
chr5	118515679	118515758	E069	34474
chr5	118515997	118516194	E069	34792
chr5	118515997	118516194	E072	34792
chr5	118441717	118441957	E074	-39248
chr5	118515679	118515758	E074	34474
chr5	118515997	118516194	E074	34792

rs7717384