SNP Detail Info-rs9815607

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

TRPC1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0354 (10595/29852,GnomAD)
A=0414 (12064/29118,TOPMED)
A=0364 (1822/5008,1000G)
A=0198 (764/3854,ALSPAC)
A=0211 (783/3708,TWINSUK)

Position: chr3:142791506 (GRCh38.p7) (3q23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
TRPC1 transcript variant 1	NM_001251845.1:c.	N/A	Intron Variant
TRPC1 transcript variant 2	NM_003304.4:c.	N/A	Intron Variant
TRPC1 transcript variant X3	XM_005247738.3:c.	N/A	Intron Variant
TRPC1 transcript variant X3	XM_005247739.2:c.	N/A	Intron Variant
TRPC1 transcript variant X1	XM_017007121.1:c.	N/A	Intron Variant
TRPC1 transcript variant X2	XM_017007122.1:c.	N/A	Intron Variant
TRPC1 transcript variant X5	XR_001740242.1:n.	N/A	Intron Variant
TRPC1 transcript variant X6	XR_001740243.1:n.	N/A	Intron Variant
TRPC1 transcript variant X7	XR_001740244.1:n.	N/A	Intron Variant
TRPC1 transcript variant X8	XR_001740245.1:n.	N/A	Intron Variant
TRPC1 transcript variant X5	XR_001740246.1:n.	N/A	Intron Variant
TRPC1 transcript variant X9	XR_241506.3:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.264	A=0.736
1000Genomes	American	Sub	694	G=0.810	A=0.190
1000Genomes	East Asian	Sub	1008	G=0.690	A=0.310
1000Genomes	Europe	Sub	1006	G=0.775	A=0.225
1000Genomes	Global	Study-wide	5008	G=0.636	A=0.364
1000Genomes	South Asian	Sub	978	G=0.810	A=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.802	A=0.198
The Genome Aggregation Database	African	Sub	8698	G=0.326	A=0.674
The Genome Aggregation Database	American	Sub	834	G=0.800	A=0.200
The Genome Aggregation Database	East Asian	Sub	1594	G=0.634	A=0.366
The Genome Aggregation Database	Europe	Sub	18424	G=0.785	A=0.214
The Genome Aggregation Database	Global	Study-wide	29852	G=0.645	A=0.354
The Genome Aggregation Database	Other	Sub	302	G=0.870	A=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.585	A=0.414
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.789	A=0.211

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs9815607	0.000795	alcohol dependence	20201924

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 )
chr3	142527005	142527380	E067	16657
chr3	142527005	142527380	E068	16657
chr3	142527005	142527380	E069	16657
chr3	142527005	142527380	E072	16657
chr3	142527005	142527380	E074	16657

rs9815607