rs2673931

Homo sapiens
C>T
TRPC7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0345 (10342/29930,GnomAD)
C==0312 (9103/29118,TOPMED)
C==0336 (1685/5008,1000G)
C==0367 (1415/3854,ALSPAC)
C==0361 (1337/3708,TWINSUK)
chr5:136353748 (GRCh38.p7) (5q31.1)
ND
GWASdb2
3   publication(s)
See rs on genome
1 Enhancer around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.136353748C>T
GRCh37.p13 chr 5NC_000005.9:g.135689436C>T

Gene: TRPC7, transient receptor potential cation channel subfamily C member 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TRPC7 transcript variant 3NM_001167576.1:c.N/AIntron Variant
TRPC7 transcript variant 2NM_001167577.1:c.N/AIntron Variant
TRPC7 transcript variant 1NM_020389.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.275T=0.725
1000GenomesAmericanSub694C=0.240T=0.760
1000GenomesEast AsianSub1008C=0.291T=0.709
1000GenomesEuropeSub1006C=0.347T=0.653
1000GenomesGlobalStudy-wide5008C=0.336T=0.664
1000GenomesSouth AsianSub978C=0.530T=0.470
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.367T=0.633
The Genome Aggregation DatabaseAfricanSub8718C=0.297T=0.703
The Genome Aggregation DatabaseAmericanSub838C=0.270T=0.730
The Genome Aggregation DatabaseEast AsianSub1614C=0.293T=0.707
The Genome Aggregation DatabaseEuropeSub18458C=0.378T=0.621
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.345T=0.654
The Genome Aggregation DatabaseOtherSub302C=0.250T=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.312T=0.687
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.361T=0.639
PMID Title Author Journal
18565990Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.Saccone SFBioinformatics
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet
18783506Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with 'pleasurable buzz' during early experimentation with smoking.Sherva RAddiction

P-Value

SNP ID p-value Traits Study
rs26739313.89E-05nicotine dependence17158188

eQTL of rs2673931 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 rs2673931 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 )
chr5135643688135644372E081-45064

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5135700942135701290E06811506
chr5135700942135701290E07311506
chr5135700942135701290E08211506