SNP Detail Info-rs2466046

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.32659643G>A
GRCh37.p13 chr 8	NC_000008.10:g.32517162G>A
NRG1 RefSeqGene	NG_012005.1:g.1024895G>A

Gene: NRG1, neuregulin 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NRG1 transcript variant HRG-beta1c	NM_001159995.2:c.	N/A	Intron Variant
NRG1 transcript variant HRG-beta1b	NM_001159999.2:c.	N/A	Intron Variant
NRG1 transcript variant HRG-beta1d	NM_001160001.2:c.	N/A	Intron Variant
NRG1 transcript variant HRG-gamma2	NM_001160002.1:c.	N/A	Intron Variant
NRG1 transcript variant ndf43b	NM_001160004.2:c.	N/A	Intron Variant
NRG1 transcript variant HRG-beta3b	NM_001160005.1:c.	N/A	Intron Variant
NRG1 transcript variant HRG-gamma3	NM_001160007.1:c.	N/A	Intron Variant
NRG1 transcript variant HRG-beta2b	NM_001160008.1:c.	N/A	Intron Variant
NRG1 transcript variant fetal-a-IV-1	NM_001322201.1:c.	N/A	Intron Variant
NRG1 transcript variant fetal-c-IV-2	NM_001322202.1:c.	N/A	Intron Variant
NRG1 transcript variant fetal-b-IV-beta-1a	NM_001322203.1:c.	N/A	Intron Variant
NRG1 transcript variant NRG-III-beta1a	NM_001322205.1:c.	N/A	Intron Variant
NRG1 transcript variant III-2	NM_001322206.1:c.	N/A	Intron Variant
NRG1 transcript variant III-3	NM_001322207.1:c.	N/A	Intron Variant
NRG1 transcript variant HRG-gamma	NM_004495.3:c.	N/A	Intron Variant
NRG1 transcript variant HRG-beta1	NM_013956.4:c.	N/A	Intron Variant
NRG1 transcript variant HRG-beta2	NM_013957.4:c.	N/A	Intron Variant
NRG1 transcript variant HRG-beta3	NM_013958.3:c.	N/A	Intron Variant
NRG1 transcript variant SMDF	NM_013959.3:c.	N/A	Intron Variant
NRG1 transcript variant ndf43	NM_013960.4:c.	N/A	Intron Variant
NRG1 transcript variant GGF2	NM_013962.2:c.	N/A	Intron Variant
NRG1 transcript variant HRG-alpha	NM_013964.4:c.	N/A	Intron Variant
NRG1 transcript variant ndf43c	NM_001159996.2:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant VI-1	NM_001322197.1:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant X1	XM_005273486.3:c.	N/A	Intron Variant
NRG1 transcript variant X2	XM_005273487.3:c.	N/A	Intron Variant
NRG1 transcript variant X8	XM_011544512.2:c.	N/A	Intron Variant
NRG1 transcript variant X3	XM_017013365.1:c.	N/A	Intron Variant
NRG1 transcript variant X4	XM_017013366.1:c.	N/A	Intron Variant
NRG1 transcript variant X5	XM_017013367.1:c.	N/A	Intron Variant
NRG1 transcript variant X6	XM_017013368.1:c.	N/A	Intron Variant
NRG1 transcript variant X10	XM_017013371.1:c.	N/A	Intron Variant
NRG1 transcript variant X11	XM_017013372.1:c.	N/A	Intron Variant
NRG1 transcript variant X13	XM_006716335.3:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant X8	XM_017013369.1:c.	N/A	Genic Upstream Transcript Variant
NRG1 transcript variant X10	XM_017013370.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.688	A=0.312
1000Genomes	American	Sub	694	G=0.520	A=0.480
1000Genomes	East Asian	Sub	1008	G=0.724	A=0.276
1000Genomes	Europe	Sub	1006	G=0.424	A=0.576
1000Genomes	Global	Study-wide	5008	G=0.583	A=0.417
1000Genomes	South Asian	Sub	978	G=0.500	A=0.500
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.387	A=0.613
The Genome Aggregation Database	African	Sub	8674	G=0.637	A=0.363
The Genome Aggregation Database	American	Sub	834	G=0.570	A=0.430
The Genome Aggregation Database	East Asian	Sub	1612	G=0.746	A=0.254
The Genome Aggregation Database	Europe	Sub	18444	G=0.431	A=0.568
The Genome Aggregation Database	Global	Study-wide	29866	G=0.511	A=0.488
The Genome Aggregation Database	Other	Sub	302	G=0.430	A=0.570
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.528	A=0.471
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.392	A=0.608

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs2466046	0.00038	alcohol dependence	20201924

eQTL of rs2466046 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr8:32517162	RP11-1002K11.1	ENSG00000272327.1	G>A	1.2926e-9	-106481	Putamen_basal_ganglia

meQTL of rs2466046 in Fetal Brain

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr8	32497930	32498004	E081	-19158
chr8	32503082	32503136	E081	-14026
chr8	32503228	32503338	E081	-13824
chr8	32505378	32505437	E081	-11725
chr8	32505442	32505486	E081	-11676
chr8	32488772	32489319	E082	-27843
chr8	32503228	32503338	E082	-13824
chr8	32540680	32541000	E082	23518
chr8	32541055	32541146	E082	23893

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr8	32503428	32504989	E068	-12173
chr8	32503428	32504989	E069	-12173
chr8	32503428	32504989	E070	-12173
chr8	32507451	32507501	E070	-9661
chr8	32503428	32504989	E072	-12173
chr8	32503428	32504989	E073	-12173
chr8	32507451	32507501	E081	-9661
chr8	32503428	32504989	E082	-12173
chr8	32507451	32507501	E082	-9661

rs2466046

Genomic Coordinates

Gene: NRG1, neuregulin 1(plus strand)

Population Frequency

P-Value

eQTL of rs2466046 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs2466046 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)