rs17640190

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

WWOX : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0003 (115/29998,GnomAD)
A=0002 (68/29118,TOPMED)
A=0003 (15/5008,1000G)
A=0006 (23/3854,ALSPAC)
A=0008 (28/3708,TWINSUK)

Position: chr16:78560010 (GRCh38.p7) (16q23.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 11 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 16	NC_000016.10:g.78560010G>A
GRCh38.p7 chr 16	NC_000016.10:g.78560010G>C
GRCh37.p13 chr 16	NC_000016.9:g.78593907G>A
GRCh37.p13 chr 16	NC_000016.9:g.78593907G>C
WWOX RefSeqGene	NG_011698.1:g.465357G>A
WWOX RefSeqGene	NG_011698.1:g.465357G>C

Gene: WWOX, WW domain containing oxidoreductase(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
WWOX transcript variant 4	NM_001291997.1:c.	N/A	Intron Variant
WWOX transcript variant 1	NM_016373.3:c.	N/A	Intron Variant
WWOX transcript variant 2	NM_130791.3:c.	N/A	Genic Downstream Transcript Variant
WWOX transcript variant 3	NR_120435.1:n.	N/A	Genic Downstream Transcript Variant
WWOX transcript variant 5	NR_120436.1:n.	N/A	Genic Downstream Transcript Variant
WWOX transcript variant X1	XM_011523101.2:c.	N/A	Intron Variant
WWOX transcript variant X2	XM_011523103.2:c.	N/A	Intron Variant
WWOX transcript variant X6	XM_017023279.1:c.	N/A	Intron Variant
WWOX transcript variant X3	XM_011523104.2:c.	N/A	Genic Downstream Transcript Variant
WWOX transcript variant X5	XM_011523105.2:c.	N/A	Genic Downstream Transcript Variant
WWOX transcript variant X4	XM_017023278.1:c.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=1.000	A=0.000
1000Genomes	American	Sub	694	G=1.000	A=0.000
1000Genomes	East Asian	Sub	1008	G=1.000	A=0.000
1000Genomes	Europe	Sub	1006	G=0.991	A=0.009
1000Genomes	Global	Study-wide	5008	G=0.997	A=0.003
1000Genomes	South Asian	Sub	978	G=0.990	A=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.994	A=0.006
The Genome Aggregation Database	African	Sub	8730	G=0.999	A=0.001
The Genome Aggregation Database	American	Sub	838	G=1.000	A=0.00,
The Genome Aggregation Database	East Asian	Sub	1622	G=1.000	A=0.000
The Genome Aggregation Database	Europe	Sub	18506	G=0.994	A=0.005
The Genome Aggregation Database	Global	Study-wide	29998	G=0.996	A=0.003
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.997	A=0.002
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.992	A=0.008

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs17640190	0.000785	nicotine smoking	19268276

eQTL of rs17640190 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs17640190 in Fetal Brain

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

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr16	33962753	33964364	E067	16995
chr16	33936544	33936923	E069	-8835
chr16	33936940	33937435	E069	-8323
chr16	33938435	33938711	E069	-7047
chr16	33962753	33964364	E071	16995
chr16	33942249	33942317	E072	-3441
chr16	33942383	33942525	E072	-3233
chr16	33942528	33942892	E072	-2866
chr16	33943022	33943399	E072	-2359
chr16	33943419	33943505	E072	-2253
chr16	33936544	33936923	E073	-8835