SNP Detail Info-rs931317

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

FHIT : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0245 (7146/29118,TOPMED)
G=0226 (6577/29032,GnomAD)
G=0190 (951/5008,1000G)
G=0198 (763/3854,ALSPAC)
G=0206 (762/3708,TWINSUK)

Position: chr3:59943125 (GRCh38.p7) (3p14.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
FHIT transcript variant 2	NM_001166243.2:c.	N/A	Intron Variant
FHIT transcript variant 3	NM_001320899.1:c.	N/A	Intron Variant
FHIT transcript variant 4	NM_001320900.1:c.	N/A	Intron Variant
FHIT transcript variant 5	NM_001320901.1:c.	N/A	Intron Variant
FHIT transcript variant 1	NM_002012.3:c.	N/A	Intron Variant
FHIT transcript variant 6	NR_135491.1:n.	N/A	Intron Variant
FHIT transcript variant X1	XM_017005880.1:c.	N/A	Intron Variant
FHIT transcript variant X2	XM_017005881.1:c.	N/A	Intron Variant
FHIT transcript variant X3	XM_017005882.1:c.	N/A	Intron Variant
FHIT transcript variant X4	XM_017005883.1:c.	N/A	Intron Variant
FHIT transcript variant X5	XM_017005884.1:c.	N/A	Intron Variant
FHIT transcript variant X6	XM_017005885.1:c.	N/A	Intron Variant
FHIT transcript variant X7	XM_017005886.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.687	G=0.313
1000Genomes	American	Sub	694	A=0.790	G=0.210
1000Genomes	East Asian	Sub	1008	A=0.982	G=0.018
1000Genomes	Europe	Sub	1006	A=0.810	G=0.190
1000Genomes	Global	Study-wide	5008	A=0.810	G=0.190
1000Genomes	South Asian	Sub	978	A=0.810	G=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.802	G=0.198
The Genome Aggregation Database	African	Sub	8408	A=0.697	G=0.303
The Genome Aggregation Database	American	Sub	824	A=0.720	G=0.280
The Genome Aggregation Database	East Asian	Sub	1546	A=0.991	G=0.009
The Genome Aggregation Database	Europe	Sub	17960	A=0.794	G=0.205
The Genome Aggregation Database	Global	Study-wide	29032	A=0.773	G=0.226
The Genome Aggregation Database	Other	Sub	294	A=0.680	G=0.320
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.754	G=0.245
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.794	G=0.206

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

SNP ID	p-value	Traits	Study
rs931317	1.44E-05	nicotine smoking	19268276

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 )
chr3	59954265	59954655	E069	25414
chr3	59881832	59881906	E072	-46945
chr3	59882559	59882675	E072	-46176
chr3	59954265	59954655	E073	25414
chr3	59881832	59881906	E081	-46945
chr3	59882559	59882675	E081	-46176
chr3	59891833	59891893	E081	-36958
chr3	59892250	59892305	E081	-36546
chr3	59892452	59892694	E081	-36157
chr3	59892935	59893162	E081	-35689
chr3	59954265	59954655	E081	25414
chr3	59964794	59965009	E081	35943
chr3	59965302	59965352	E081	36451
chr3	59965468	59965807	E081	36617
chr3	59892935	59893162	E082	-35689
chr3	59935202	59935269	E082	6351
chr3	59954265	59954655	E082	25414

rs931317