SNP Detail Info-rs12086347

Organism: Homo sapiens

Alleles: G>A / G>T

Gene : Feature

GALNT2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0276 (8164/29494,GnomAD)
A=0301 (8774/29116,TOPMED)
A=0264 (1320/5008,1000G)
A=0284 (1095/3854,ALSPAC)
A=0270 (1001/3708,TWINSUK)

Position: chr1:230127626 (GRCh38.p7) (1q42.13)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
GALNT2 transcript variant 2	NM_001291866.1:c.	N/A	Intron Variant
GALNT2 transcript variant 1	NM_004481.4:c.	N/A	Intron Variant
GALNT2 transcript variant 3	NR_120373.1:n.	N/A	Genic Downstream Transcript Variant
GALNT2 transcript variant X1	XM_017000963.1:c.	N/A	Intron Variant
GALNT2 transcript variant X2	XM_017000964.1:c.	N/A	Intron Variant
GALNT2 transcript variant X3	XM_017000965.1:c.	N/A	Intron Variant
GALNT2 transcript variant X4	XM_017000966.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.659	A=0.341
1000Genomes	American	Sub	694	G=0.790	A=0.210
1000Genomes	East Asian	Sub	1008	G=0.736	A=0.264
1000Genomes	Europe	Sub	1006	G=0.751	A=0.249
1000Genomes	Global	Study-wide	5008	G=0.736	A=0.264
1000Genomes	South Asian	Sub	978	G=0.790	A=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.716	A=0.284
The Genome Aggregation Database	African	Sub	8620	G=0.682	A=0.318
The Genome Aggregation Database	American	Sub	836	G=0.790	A=0.210
The Genome Aggregation Database	East Asian	Sub	1610	G=0.739	A=0.261
The Genome Aggregation Database	Europe	Sub	18130	G=0.737	A=0.262
The Genome Aggregation Database	Global	Study-wide	29494	G=0.723	A=0.276
The Genome Aggregation Database	Other	Sub	298	G=0.770	A=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.698	A=0.301
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.730	A=0.270

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

SNP ID	p-value	Traits	Study
rs12086347	0.000105	alcohol consumption	23743675

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

rs12086347