SNP Detail Info-rs1434075

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CTNNA2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0453 (13547/29898,GnomAD)
A=0464 (13524/29116,TOPMED)
A=0383 (1919/5008,1000G)
A=0421 (1624/3854,ALSPAC)
A=0428 (1586/3708,TWINSUK)

Position: chr2:80516069 (GRCh38.p7) (2p12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 7 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.80516069G>A
GRCh37.p13 chr 2	NC_000002.11:g.80743194G>A

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	G=0.459	A=0.541
1000Genomes	American	Sub	694	G=0.650	A=0.350
1000Genomes	East Asian	Sub	1008	G=0.877	A=0.123
1000Genomes	Europe	Sub	1006	G=0.580	A=0.420
1000Genomes	Global	Study-wide	5008	G=0.617	A=0.383
1000Genomes	South Asian	Sub	978	G=0.570	A=0.430
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.579	A=0.421
The Genome Aggregation Database	African	Sub	8692	G=0.470	A=0.530
The Genome Aggregation Database	American	Sub	836	G=0.600	A=0.400
The Genome Aggregation Database	East Asian	Sub	1610	G=0.842	A=0.158
The Genome Aggregation Database	Europe	Sub	18458	G=0.552	A=0.447
The Genome Aggregation Database	Global	Study-wide	29898	G=0.546	A=0.453
The Genome Aggregation Database	Other	Sub	302	G=0.700	A=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.535	A=0.464
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.572	A=0.428

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
rs1434075	0.000911	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	3970
chr2	80747164	80747238	E068	3970
chr2	80746428	80746491	E069	3234
chr2	80775702	80775926	E069	32508
chr2	80746428	80746491	E072	3234
chr2	80747164	80747238	E072	3970
chr2	80775702	80775926	E082	32508

rs1434075