rs13094259

Homo sapiens
G>T
TRPC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0144 (4328/29932,GnomAD)
T=0139 (4046/29118,TOPMED)
T=0089 (444/5008,1000G)
T=0196 (755/3854,ALSPAC)
T=0197 (731/3708,TWINSUK)
chr3:142725783 (GRCh38.p7) (3q23)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.142725783G>T
GRCh37.p13 chr 3NC_000003.11:g.142444625G>T
TRPC1 RefSeqGeneNG_030369.1:g.6360G>T

Gene: TRPC1, transient receptor potential cation channel subfamily C member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TRPC1 transcript variant 1NM_001251845.1:c.N/AIntron Variant
TRPC1 transcript variant 2NM_003304.4:c.N/AIntron Variant
TRPC1 transcript variant X3XM_005247738.3:c.N/AIntron Variant
TRPC1 transcript variant X3XM_005247739.2:c.N/AIntron Variant
TRPC1 transcript variant X1XM_017007121.1:c.N/AGenic Upstream Transcript Variant
TRPC1 transcript variant X2XM_017007122.1:c.N/AGenic Upstream Transcript Variant
TRPC1 transcript variant X5XR_001740242.1:n.N/AIntron Variant
TRPC1 transcript variant X6XR_001740243.1:n.N/AIntron Variant
TRPC1 transcript variant X7XR_001740244.1:n.N/AIntron Variant
TRPC1 transcript variant X8XR_001740245.1:n.N/AIntron Variant
TRPC1 transcript variant X9XR_241506.3:n.N/AIntron Variant
TRPC1 transcript variant X5XR_001740246.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.978T=0.022
1000GenomesAmericanSub694G=0.860T=0.140
1000GenomesEast AsianSub1008G=0.998T=0.002
1000GenomesEuropeSub1006G=0.791T=0.209
1000GenomesGlobalStudy-wide5008G=0.911T=0.089
1000GenomesSouth AsianSub978G=0.890T=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.804T=0.196
The Genome Aggregation DatabaseAfricanSub8716G=0.959T=0.041
The Genome Aggregation DatabaseAmericanSub836G=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1620G=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18458G=0.792T=0.207
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.855T=0.144
The Genome Aggregation DatabaseOtherSub302G=0.810T=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.861T=0.139
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.803T=0.197
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs130942590.000644alcohol dependence20201924

eQTL of rs13094259 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 rs13094259 in Fetal Brain

Probe ID Position Gene beta p-value
cg27552955chr3:142442915TRPC10.008610138021715433.7556e-17

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 )
chr3142404082142404173E067-40452
chr3142444959142445032E067334
chr3142404082142404173E068-40452
chr3142444959142445032E069334
chr3142444959142445032E070334
chr3142403466142403581E071-41044
chr3142404082142404173E071-40452
chr3142444959142445032E071334
chr3142404082142404173E072-40452
chr3142442177142442220E072-2405
chr3142404082142404173E074-40452
chr3142442177142442220E081-2405
chr3142444959142445032E081334
chr3142454494142454577E0819869








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3142442512142444213E067-412
chr3142444295142444351E067-274
chr3142444355142444462E067-163
chr3142442512142444213E068-412
chr3142444295142444351E068-274
chr3142444355142444462E068-163
chr3142444538142444624E068-1
chr3142442512142444213E069-412
chr3142444295142444351E069-274
chr3142444355142444462E069-163
chr3142444538142444624E069-1
chr3142442512142444213E070-412
chr3142444295142444351E070-274
chr3142444355142444462E070-163
chr3142444538142444624E070-1
chr3142442512142444213E071-412
chr3142444295142444351E071-274
chr3142442512142444213E072-412
chr3142444295142444351E072-274
chr3142444355142444462E072-163
chr3142444538142444624E072-1
chr3142442512142444213E073-412
chr3142444295142444351E073-274
chr3142444355142444462E073-163
chr3142444538142444624E073-1
chr3142442512142444213E074-412
chr3142442512142444213E081-412
chr3142444295142444351E081-274
chr3142444355142444462E081-163
chr3142444538142444624E081-1
chr3142442512142444213E082-412
chr3142444295142444351E082-274
chr3142444355142444462E082-163
chr3142444538142444624E082-1