SNP Detail Info-rs76935404

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0331 (9918/29916,GnomAD)
T=0328 (9569/29118,TOPMED)
T=0363 (1820/5008,1000G)
T=0378 (1457/3854,ALSPAC)
T=0369 (1367/3708,TWINSUK)

Position: chr19:40913389 (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.40913389C>T
GRCh37.p13 chr 19	NC_000019.9:g.41419294C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.732	T=0.268
1000Genomes	American	Sub	694	C=0.560	T=0.440
1000Genomes	East Asian	Sub	1008	C=0.696	T=0.304
1000Genomes	Europe	Sub	1006	C=0.612	T=0.388
1000Genomes	Global	Study-wide	5008	C=0.637	T=0.363
1000Genomes	South Asian	Sub	978	C=0.530	T=0.470
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.622	T=0.378
The Genome Aggregation Database	African	Sub	8712	C=0.726	T=0.274
The Genome Aggregation Database	American	Sub	838	C=0.570	T=0.430
The Genome Aggregation Database	East Asian	Sub	1612	C=0.685	T=0.315
The Genome Aggregation Database	Europe	Sub	18452	C=0.643	T=0.356
The Genome Aggregation Database	Global	Study-wide	29916	C=0.668	T=0.331
The Genome Aggregation Database	Other	Sub	302	C=0.750	T=0.250
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.671	T=0.328
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.631	T=0.369

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
rs76935404	1E-25	nicotine metabolite ratio in current smokers	27488534

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:41419294	CYP2A7	ENSG00000198077.6	C>T	7.9556e-5	30637	Nucleus_accumbens_basal_ganglia

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

rs76935404