SNP Detail Info-rs73931391

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC107985299 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0044 (1319/29968,GnomAD)
G=0041 (1202/29118,TOPMED)
G=0032 (159/5008,1000G)
G=0023 (89/3854,ALSPAC)
G=0021 (79/3708,TWINSUK)

Position: chr19:40901969 (GRCh38.p7) (19q13.2)

Phenotype: ND

Dataset:

GWASCatalog

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 19	NC_000019.10:g.40901969A>G
GRCh37.p13 chr 19	NC_000019.9:g.41407874A>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107985299 transcript	XR_001753940.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.921	G=0.079
1000Genomes	American	Sub	694	A=0.970	G=0.030
1000Genomes	East Asian	Sub	1008	A=1.000	G=0.000
1000Genomes	Europe	Sub	1006	A=0.974	G=0.026
1000Genomes	Global	Study-wide	5008	A=0.968	G=0.032
1000Genomes	South Asian	Sub	978	A=0.990	G=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.977	G=0.023
The Genome Aggregation Database	African	Sub	8718	A=0.930	G=0.070
The Genome Aggregation Database	American	Sub	838	A=0.980	G=0.020
The Genome Aggregation Database	East Asian	Sub	1622	A=1.000	G=0.000
The Genome Aggregation Database	Europe	Sub	18488	A=0.963	G=0.036
The Genome Aggregation Database	Global	Study-wide	29968	A=0.956	G=0.044
The Genome Aggregation Database	Other	Sub	302	A=0.970	G=0.030
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.958	G=0.041
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.979	G=0.021

PMID	Title	Author	Journal
27488534	Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk.	Patel YM	Cancer Res

SNP ID	p-value	Traits	Study
rs73931391	2E-12	nicotine metabolite ratio in current smokers	27488534

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

rs73931391