SNP Detail Info-rs993598

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.178317968G>A
GRCh37.p13 chr 2	NC_000002.11:g.179182695G>A

Molecule type	Change	Amino acid[Codon]	SO Term
OSBPL6 transcript variant 3	NM_001201480.1:c.	N/A	Intron Variant
OSBPL6 transcript variant 4	NM_001201481.1:c.	N/A	Intron Variant
OSBPL6 transcript variant 5	NM_001201482.1:c.	N/A	Intron Variant
OSBPL6 transcript variant 1	NM_032523.3:c.	N/A	Intron Variant
OSBPL6 transcript variant 2	NM_145739.2:c.	N/A	Genic Upstream Transcript Variant
OSBPL6 transcript variant X4	XM_011510539.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X1	XM_017003265.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X2	XM_017003266.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X3	XM_017003267.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X5	XM_017003268.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X6	XM_017003269.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X7	XM_017003270.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X8	XM_017003271.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X9	XM_017003272.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X10	XM_017003273.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X11	XM_017003274.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X12	XM_017003275.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X13	XM_017003276.1:c.	N/A	Intron Variant
OSBPL6 transcript variant X14	XM_017003277.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.771	A=0.229
1000Genomes	American	Sub	694	G=0.560	A=0.440
1000Genomes	East Asian	Sub	1008	G=0.480	A=0.520
1000Genomes	Europe	Sub	1006	G=0.492	A=0.508
1000Genomes	Global	Study-wide	5008	G=0.593	A=0.407
1000Genomes	South Asian	Sub	978	G=0.590	A=0.410
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.528	A=0.472
The Genome Aggregation Database	African	Sub	8704	G=0.737	A=0.263
The Genome Aggregation Database	American	Sub	836	G=0.530	A=0.470
The Genome Aggregation Database	East Asian	Sub	1612	G=0.469	A=0.531
The Genome Aggregation Database	Europe	Sub	18428	G=0.519	A=0.480
The Genome Aggregation Database	Global	Study-wide	29880	G=0.578	A=0.421
The Genome Aggregation Database	Other	Sub	300	G=0.350	A=0.650
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.618	A=0.381
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.522	A=0.478

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res
20007504	Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.	-	Hum Mol Genet

SNP ID	p-value	Traits	Study
rs993598	2.75E-05	alcohol consumption	23953852

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 )
chr2	179136634	179137023	E067	-45672
chr2	179192832	179193045	E067	10137
chr2	179195443	179195660	E067	12748
chr2	179196305	179196504	E067	13610
chr2	179136159	179136203	E068	-46492
chr2	179136634	179137023	E068	-45672
chr2	179137294	179137374	E068	-45321
chr2	179142486	179142777	E068	-39918
chr2	179142788	179142988	E068	-39707
chr2	179143090	179143231	E068	-39464
chr2	179195443	179195660	E068	12748
chr2	179136634	179137023	E069	-45672
chr2	179137294	179137374	E069	-45321
chr2	179192832	179193045	E069	10137
chr2	179195443	179195660	E069	12748
chr2	179196305	179196504	E070	13610
chr2	179136634	179137023	E071	-45672
chr2	179195443	179195660	E071	12748
chr2	179136634	179137023	E073	-45672
chr2	179136634	179137023	E074	-45672
chr2	179137294	179137374	E074	-45321
chr2	179146766	179147335	E081	-35360
chr2	179231405	179231525	E081	48710
chr2	179231952	179232589	E081	49257
chr2	179231405	179231525	E082	48710
chr2	179231952	179232589	E082	49257

rs993598