rs9533443

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

ENOX1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0341 (10220/29936,GnomAD)
C=0353 (10285/29116,TOPMED)
C=0395 (1980/5008,1000G)
C=0359 (1382/3854,ALSPAC)
C=0350 (1297/3708,TWINSUK)

Position: chr13:43293604 (GRCh38.p7) (13q14.11)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.43293604G>A
GRCh38.p7 chr 13	NC_000013.11:g.43293604G>C
GRCh37.p13 chr 13	NC_000013.10:g.43867740G>A
GRCh37.p13 chr 13	NC_000013.10:g.43867740G>C

Gene: ENOX1, ecto-NOX disulfide-thiol exchanger 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ENOX1 transcript variant 2	NM_001127615.1:c.	N/A	Intron Variant
ENOX1 transcript variant 3	NM_001242863.1:c.	N/A	Intron Variant
ENOX1 transcript variant 1	NM_017993.3:c.	N/A	Intron Variant
ENOX1 transcript variant X1	XM_005266439.3:c.	N/A	Intron Variant
ENOX1 transcript variant X2	XM_011535126.2:c.	N/A	Intron Variant
ENOX1 transcript variant X5	XM_011535127.2:c.	N/A	Intron Variant
ENOX1 transcript variant X4	XM_011535128.2:c.	N/A	Intron Variant
ENOX1 transcript variant X8	XM_011535132.2:c.	N/A	Intron Variant
ENOX1 transcript variant X3	XM_017020637.1:c.	N/A	Intron Variant
ENOX1 transcript variant X6	XM_017020638.1:c.	N/A	Intron Variant
ENOX1 transcript variant X7	XM_017020639.1:c.	N/A	Intron Variant
ENOX1 transcript variant X9	XM_017020640.1:c.	N/A	Intron Variant
ENOX1 transcript variant X10	XM_017020641.1:c.	N/A	Genic Downstream Transcript Variant
ENOX1 transcript variant X12	XM_017020642.1:c.	N/A	Genic Downstream Transcript Variant
ENOX1 transcript variant X13	XR_001749593.1:n.	N/A	Intron Variant
ENOX1 transcript variant X12	XR_001749594.1:n.	N/A	Intron Variant
ENOX1 transcript variant X11	XR_001749592.1:n.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.712	C=0.288
1000Genomes	American	Sub	694	G=0.630	C=0.370
1000Genomes	East Asian	Sub	1008	G=0.568	C=0.432
1000Genomes	Europe	Sub	1006	G=0.657	C=0.343
1000Genomes	Global	Study-wide	5008	G=0.605	C=0.395
1000Genomes	South Asian	Sub	978	G=0.420	C=0.580
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.641	C=0.359
The Genome Aggregation Database	African	Sub	8706	G=0.693	C=0.307
The Genome Aggregation Database	American	Sub	838	G=0.600	C=0.400
The Genome Aggregation Database	East Asian	Sub	1614	G=0.605	C=0.395
The Genome Aggregation Database	Europe	Sub	18476	G=0.648	C=0.351
The Genome Aggregation Database	Global	Study-wide	29936	G=0.658	C=0.341
The Genome Aggregation Database	Other	Sub	302	G=0.730	C=0.270
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.646	C=0.353
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.650	C=0.350

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
rs9533443	0.000248	nicotine smoking	19268276

eQTL of rs9533443 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 rs9533443 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.