SNP Detail Info-rs4976485

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

TRPC7 : Intron Variant
TRPC7-AS2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0324 (9693/29916,GnomAD)
A==0278 (8109/29118,TOPMED)
A==0313 (1569/5008,1000G)
A==0365 (1407/3854,ALSPAC)
A==0359 (1333/3708,TWINSUK)

Position: chr5:136314610 (GRCh38.p7) (5q31.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 1 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.136314610A>G
GRCh37.p13 chr 5	NC_000005.9:g.135650298A>G

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

Molecule type	Change	Amino acid[Codon]	SO Term
TRPC7-AS2 transcript	NR_133682.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.215	G=0.785
1000Genomes	American	Sub	694	A=0.220	G=0.780
1000Genomes	East Asian	Sub	1008	A=0.271	G=0.729
1000Genomes	Europe	Sub	1006	A=0.343	G=0.657
1000Genomes	Global	Study-wide	5008	A=0.313	G=0.687
1000Genomes	South Asian	Sub	978	A=0.520	G=0.480
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.365	G=0.635
The Genome Aggregation Database	African	Sub	8718	A=0.234	G=0.766
The Genome Aggregation Database	American	Sub	836	A=0.260	G=0.740
The Genome Aggregation Database	East Asian	Sub	1616	A=0.270	G=0.730
The Genome Aggregation Database	Europe	Sub	18444	A=0.375	G=0.624
The Genome Aggregation Database	Global	Study-wide	29916	A=0.324	G=0.676
The Genome Aggregation Database	Other	Sub	302	A=0.250	G=0.750
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.278	G=0.721
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.359	G=0.641

PMID	Title	Author	Journal
17158188	Novel genes identified in a high-density genome wide association study for nicotine dependence.	Bierut LJ	Hum Mol Genet

SNP ID	p-value	Traits	Study
rs4976485	0.000163	nicotine dependence	17158188

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

rs4976485