SNP Detail Info-rs7605261

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

CTNNA2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0444 (13258/29814,GnomAD)
G=0442 (12892/29116,TOPMED)
G=0446 (2233/5008,1000G)
G=0421 (1622/3854,ALSPAC)
G=0422 (1563/3708,TWINSUK)

Position: chr2:80544065 (GRCh38.p7) (2p12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 4 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.80544065T>G
GRCh37.p13 chr 2	NC_000002.11:g.80771190T>G

Molecule type	Change	Amino acid[Codon]	SO Term
CTNNA2 transcript variant 2	NM_001164883.1:c.	N/A	Intron Variant
CTNNA2 transcript variant 3	NM_001282597.2:c.	N/A	Intron Variant
CTNNA2 transcript variant 4	NM_001282598.1:c.	N/A	Intron Variant
CTNNA2 transcript variant 5	NM_001282599.1:c.	N/A	Intron Variant
CTNNA2 transcript variant 6	NM_001282600.1:c.	N/A	Intron Variant
CTNNA2 transcript variant 7	NM_001320810.1:c.	N/A	Intron Variant
CTNNA2 transcript variant 1	NM_004389.3:c.	N/A	Intron Variant
CTNNA2 transcript variant X4	XM_011532555.2:c.	N/A	Intron Variant
CTNNA2 transcript variant X2	XM_011532556.2:c.	N/A	Intron Variant
CTNNA2 transcript variant X9	XM_011532557.2:c.	N/A	Intron Variant
CTNNA2 transcript variant X3	XM_017003403.1:c.	N/A	Intron Variant
CTNNA2 transcript variant X4	XM_017003404.1:c.	N/A	Intron Variant
CTNNA2 transcript variant X5	XM_017003405.1:c.	N/A	Intron Variant
CTNNA2 transcript variant X7	XM_017003406.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.535	G=0.465
1000Genomes	American	Sub	694	T=0.610	G=0.390
1000Genomes	East Asian	Sub	1008	T=0.654	G=0.346
1000Genomes	Europe	Sub	1006	T=0.574	G=0.426
1000Genomes	Global	Study-wide	5008	T=0.554	G=0.446
1000Genomes	South Asian	Sub	978	T=0.420	G=0.580
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.579	G=0.421
The Genome Aggregation Database	African	Sub	8686	T=0.528	G=0.472
The Genome Aggregation Database	American	Sub	834	T=0.590	G=0.410
The Genome Aggregation Database	East Asian	Sub	1604	T=0.691	G=0.309
The Genome Aggregation Database	Europe	Sub	18388	T=0.552	G=0.447
The Genome Aggregation Database	Global	Study-wide	29814	T=0.555	G=0.444
The Genome Aggregation Database	Other	Sub	302	T=0.670	G=0.330
Trans-Omics for Precision Medicine	Global	Study-wide	29116	T=0.557	G=0.442
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.578	G=0.422

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

SNP ID	p-value	Traits	Study
rs7605261	0.000573	alcohol dependence	20201924

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	80747164	80747238	E067	-23952
chr2	80747164	80747238	E068	-23952
chr2	80746428	80746491	E069	-24699
chr2	80775702	80775926	E069	4512
chr2	80818383	80818465	E070	47193
chr2	80746428	80746491	E072	-24699
chr2	80747164	80747238	E072	-23952
chr2	80775702	80775926	E082	4512

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	80815940	80816430	E072	44750
chr2	80816594	80816653	E072	45404
chr2	80815940	80816430	E073	44750
chr2	80816594	80816653	E073	45404

rs7605261