SNP Detail Info-rs12472151

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

TRPM8 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0036 (1079/29816,GnomAD)
A=0035 (1044/29118,TOPMED)
A=0048 (239/5008,1000G)
A=0049 (190/3854,ALSPAC)
A=0051 (189/3708,TWINSUK)

Position: chr2:233944048 (GRCh38.p7) (2q37.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 15 Enhancers around

Promoter: 7 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.233944048G>A
GRCh37.p13 chr 2	NC_000002.11:g.234852692G>A

Molecule type	Change	Amino acid[Codon]	SO Term
TRPM8 transcript	NM_024080.4:c.	N/A	Intron Variant
TRPM8 transcript variant X1	XM_011511810.2:c.	N/A	Intron Variant
TRPM8 transcript variant X2	XM_017004891.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.977	A=0.023
1000Genomes	American	Sub	694	G=0.920	A=0.080
1000Genomes	East Asian	Sub	1008	G=0.926	A=0.074
1000Genomes	Europe	Sub	1006	G=0.963	A=0.037
1000Genomes	Global	Study-wide	5008	G=0.952	A=0.048
1000Genomes	South Asian	Sub	978	G=0.960	A=0.040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.951	A=0.049
The Genome Aggregation Database	African	Sub	8706	G=0.976	A=0.024
The Genome Aggregation Database	American	Sub	838	G=0.920	A=0.080
The Genome Aggregation Database	East Asian	Sub	1618	G=0.929	A=0.071
The Genome Aggregation Database	Europe	Sub	18352	G=0.963	A=0.036
The Genome Aggregation Database	Global	Study-wide	29816	G=0.963	A=0.036
The Genome Aggregation Database	Other	Sub	302	G=0.940	A=0.060
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.964	A=0.035
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.949	A=0.051

PMID	Title	Author	Journal
16882734	Genetic predictors for acute experimental cold and heat pain sensitivity in humans.	Kim H	J Med Genet
23942779	A genome-wide association study of behavioral disinhibition.	McGue M	Behav Genet

SNP ID	p-value	Traits	Study
rs12472151	2E-06	alcohol consumption	23942779

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	234875130	234875363	E067	22438
chr2	234875944	234876236	E067	23252
chr2	234875130	234875363	E068	22438
chr2	234875130	234875363	E069	22438
chr2	234875944	234876236	E069	23252
chr2	234882320	234882433	E069	29628
chr2	234882463	234882786	E069	29771
chr2	234883852	234883973	E069	31160
chr2	234898422	234898528	E070	45730
chr2	234875130	234875363	E071	22438
chr2	234875944	234876236	E071	23252
chr2	234875130	234875363	E072	22438
chr2	234885388	234885783	E081	32696
chr2	234885863	234886101	E081	33171
chr2	234891892	234891993	E081	39200

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	234847704	234847866	E068	-4826
chr2	234847704	234847866	E069	-4826
chr2	234847704	234847866	E070	-4826
chr2	234847704	234847866	E072	-4826
chr2	234847704	234847866	E073	-4826
chr2	234847704	234847866	E074	-4826
chr2	234847704	234847866	E082	-4826

rs12472151