rs12992084

Homo sapiens
T>C
TRPM8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0036 (1101/29996,GnomAD)
C=0035 (1045/29118,TOPMED)
C=0050 (248/5008,1000G)
C=0049 (190/3854,ALSPAC)
C=0051 (189/3708,TWINSUK)
chr2:233946710 (GRCh38.p7) (2q37.1)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.233946710T>C
GRCh37.p13 chr 2NC_000002.11:g.234855354T>C

Gene: TRPM8, transient receptor potential cation channel subfamily M member 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TRPM8 transcriptNM_024080.4:c.N/AIntron Variant
TRPM8 transcript variant X1XM_011511810.2:c.N/AIntron Variant
TRPM8 transcript variant X2XM_017004891.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.977C=0.023
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=0.917C=0.083
1000GenomesEuropeSub1006T=0.963C=0.037
1000GenomesGlobalStudy-wide5008T=0.950C=0.050
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.951C=0.049
The Genome Aggregation DatabaseAfricanSub8730T=0.975C=0.025
The Genome Aggregation DatabaseAmericanSub838T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1618T=0.920C=0.080
The Genome Aggregation DatabaseEuropeSub18508T=0.963C=0.036
The Genome Aggregation DatabaseGlobalStudy-wide29996T=0.963C=0.036
The Genome Aggregation DatabaseOtherSub302T=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.964C=0.035
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.949C=0.051
PMID Title Author Journal
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet

P-Value

SNP ID p-value Traits Study
rs129920842.4E-06alcohol consumption23942779

eQTL of rs12992084 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs12992084 in Fetal Brain

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

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr2234875130234875363E06719776
chr2234875944234876236E06720590
chr2234875130234875363E06819776
chr2234875130234875363E06919776
chr2234875944234876236E06920590
chr2234882320234882433E06926966
chr2234882463234882786E06927109
chr2234883852234883973E06928498
chr2234898422234898528E07043068
chr2234875130234875363E07119776
chr2234875944234876236E07120590
chr2234875130234875363E07219776
chr2234885388234885783E08130034
chr2234885863234886101E08130509
chr2234891892234891993E08136538







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2234847704234847866E068-7488
chr2234847704234847866E069-7488
chr2234847704234847866E070-7488
chr2234847704234847866E072-7488
chr2234847704234847866E073-7488
chr2234847704234847866E074-7488
chr2234847704234847866E082-7488