SNP Detail Info-rs1323161

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.43426495G>A
GRCh38.p7 chr 13	NC_000013.11:g.43426495G>T
GRCh37.p13 chr 13	NC_000013.10:g.44000631G>A
GRCh37.p13 chr 13	NC_000013.10:g.44000631G>T

Gene: ENOX1, ecto-NOX disulfide-thiol exchanger 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ENOX1 transcript variant 2	NM_001127615.1:c.	N/A	Intron Variant
ENOX1 transcript variant 3	NM_001242863.1:c.	N/A	Intron Variant
ENOX1 transcript variant 1	NM_017993.3:c.	N/A	Intron Variant
ENOX1 transcript variant X1	XM_005266439.3:c.	N/A	Intron Variant
ENOX1 transcript variant X2	XM_011535126.2:c.	N/A	Intron Variant
ENOX1 transcript variant X5	XM_011535127.2:c.	N/A	Intron Variant
ENOX1 transcript variant X4	XM_011535128.2:c.	N/A	Intron Variant
ENOX1 transcript variant X8	XM_011535132.2:c.	N/A	Intron Variant
ENOX1 transcript variant X3	XM_017020637.1:c.	N/A	Intron Variant
ENOX1 transcript variant X6	XM_017020638.1:c.	N/A	Intron Variant
ENOX1 transcript variant X7	XM_017020639.1:c.	N/A	Intron Variant
ENOX1 transcript variant X9	XM_017020640.1:c.	N/A	Intron Variant
ENOX1 transcript variant X10	XM_017020641.1:c.	N/A	Intron Variant
ENOX1 transcript variant X12	XM_017020642.1:c.	N/A	Intron Variant
ENOX1 transcript variant X11	XR_001749592.1:n.	N/A	Intron Variant
ENOX1 transcript variant X13	XR_001749593.1:n.	N/A	Intron Variant
ENOX1 transcript variant X12	XR_001749594.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.766	A=0.234
1000Genomes	American	Sub	694	G=0.730	A=0.270
1000Genomes	East Asian	Sub	1008	G=0.812	A=0.188
1000Genomes	Europe	Sub	1006	G=0.539	A=0.461
1000Genomes	Global	Study-wide	5008	G=0.675	A=0.325
1000Genomes	South Asian	Sub	978	G=0.510	A=0.490
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.529	A=0.471
The Genome Aggregation Database	African	Sub	8638	G=0.733	T=0.000
The Genome Aggregation Database	American	Sub	836	G=0.720	T=0.00,
The Genome Aggregation Database	East Asian	Sub	1616	G=0.856	T=0.000
The Genome Aggregation Database	Europe	Sub	18224	G=0.531	T=0.000
The Genome Aggregation Database	Global	Study-wide	29616	G=0.613	T=0.000
The Genome Aggregation Database	Other	Sub	302	G=0.530	T=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.637	A=0.362
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.538	A=0.462

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

P-Value

SNP ID	p-value	Traits	Study
rs1323161	6.7E-05	alcohol dependence	24277619

eQTL of rs1323161 in Brain tissues (GTEx Analysis Release V7)

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

meQTL of rs1323161 in Fetal Brain

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

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr13	101592778	101592832	E070	-27897
chr13	101592961	101593210	E070	-27519
chr13	101593331	101593381	E070	-27348
chr13	101593787	101593912	E070	-26817
chr13	101594064	101594484	E070	-26245
chr13	101606582	101606642	E070	-14087
chr13	101606831	101606885	E070	-13844
chr13	101606999	101607054	E070	-13675
chr13	101607125	101607507	E070	-13222
chr13	101635339	101635430	E070	14610
chr13	101635547	101635907	E070	14818
chr13	101668706	101668756	E070	47977
chr13	101669235	101669375	E070	48506
chr13	101669512	101669774	E070	48783
chr13	101669934	101670064	E070	49205
chr13	101593331	101593381	E071	-27348
chr13	101664663	101664713	E072	43934
chr13	101664758	101664798	E072	44029
chr13	101664887	101665041	E072	44158
chr13	101665144	101665200	E072	44415
chr13	101665476	101665526	E072	44747
chr13	101665946	101666023	E072	45217
chr13	101664663	101664713	E074	43934
chr13	101664758	101664798	E074	44029
chr13	101664887	101665041	E074	44158
chr13	101665144	101665200	E074	44415
chr13	101665476	101665526	E074	44747
chr13	101592778	101592832	E081	-27897
chr13	101592961	101593210	E081	-27519
chr13	101593331	101593381	E081	-27348
chr13	101594064	101594484	E081	-26245
chr13	101609346	101609406	E081	-11323
chr13	101611007	101611590	E081	-9139
chr13	101611629	101611992	E081	-8737
chr13	101612390	101612440	E081	-8289
chr13	101629934	101630272	E081	9205
chr13	101630324	101630374	E081	9595
chr13	101632651	101632838	E081	11922
chr13	101632959	101633494	E081	12230
chr13	101633552	101633655	E081	12823
chr13	101633792	101633842	E081	13063
chr13	101635339	101635430	E081	14610
chr13	101635547	101635907	E081	14818
chr13	101635916	101636021	E081	15187
chr13	101636291	101636412	E081	15562
chr13	101592961	101593210	E082	-27519
chr13	101593787	101593912	E082	-26817
chr13	101594064	101594484	E082	-26245
chr13	101606999	101607054	E082	-13675
chr13	101607125	101607507	E082	-13222
chr13	101611629	101611992	E082	-8737
chr13	101635547	101635907	E082	14818
chr13	101635916	101636021	E082	15187

rs1323161

Genomic Coordinates

Gene: ENOX1, ecto-NOX disulfide-thiol exchanger 1(minus strand)

Population Frequency

P-Value

eQTL of rs1323161 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs1323161 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)