SNP Detail Info-rs11993480

Organism: Homo sapiens

Alleles: A>G / A>T

Gene : Feature

CHD7 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0287 (8356/29118,TOPMED)
A==0249 (5327/21392,GnomAD)
A==0212 (1062/5008,1000G)

Position: chr8:60744514 (GRCh38.p7) (8q12.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 4 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
CHD7 transcript variant 2	NM_001316690.1:c.	N/A	Intron Variant
CHD7 transcript variant 1	NM_017780.3:c.	N/A	Intron Variant
CHD7 transcript variant X1	XM_011517553.2:c.	N/A	Intron Variant
CHD7 transcript variant X2	XM_011517554.2:c.	N/A	Intron Variant
CHD7 transcript variant X4	XM_011517555.2:c.	N/A	Intron Variant
CHD7 transcript variant X6	XM_011517560.2:c.	N/A	Intron Variant
CHD7 transcript variant X3	XM_017013612.1:c.	N/A	Intron Variant
CHD7 transcript variant X5	XM_017013613.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.364	G=0.636
1000Genomes	American	Sub	694	A=0.190	G=0.810
1000Genomes	East Asian	Sub	1008	A=0.066	G=0.934
1000Genomes	Europe	Sub	1006	A=0.244	G=0.756
1000Genomes	Global	Study-wide	5008	A=0.212	G=0.788
1000Genomes	South Asian	Sub	978	A=0.140	G=0.860
The Genome Aggregation Database	African	Sub	5992	A=0.352	T=0.000
The Genome Aggregation Database	American	Sub	538	A=0.230	T=0.00,
The Genome Aggregation Database	East Asian	Sub	1338	A=0.070	T=0.000
The Genome Aggregation Database	Europe	Sub	13244	A=0.221	T=0.000
The Genome Aggregation Database	Global	Study-wide	21392	A=0.249	T=0.000
The Genome Aggregation Database	Other	Sub	280	A=0.250	T=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.287	G=0.713

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
rs11993480	0.000466	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr8	79215731	79215836	E070	-15713
chr8	79215895	79215975	E070	-15574
chr8	79215731	79215836	E081	-15713
chr8	79215895	79215975	E081	-15574

rs11993480