SNP Detail Info-rs696748

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

FYB : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0163 (4894/29974,GnomAD)
A==0171 (4997/29118,TOPMED)
A==0143 (716/5008,1000G)
A==0100 (385/3854,ALSPAC)
A==0104 (384/3708,TWINSUK)

Position: chr5:39213594 (GRCh38.p7) (5p13.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 11 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
FYB1 transcript variant 3	NM_001243093.1:c.	N/A	Intron Variant
FYB transcript variant 1	NM_001465.4:c.	N/A	Intron Variant
FYB transcript variant 2	NM_199335.3:c.	N/A	Intron Variant
FYB transcript variant X4	XM_006714464.2:c.	N/A	Intron Variant
FYB transcript variant X2	XM_006714465.2:c.	N/A	Intron Variant
FYB1 transcript variant X4	XM_006714466.2:c.	N/A	Intron Variant
FYB transcript variant X1	XM_011514008.2:c.	N/A	Intron Variant
FYB1 transcript variant X2	XM_011514009.1:c.	N/A	Intron Variant
FYB1 transcript variant X5	XM_011514010.1:c.	N/A	Intron Variant
FYB1 transcript variant X6	XM_011514011.2:c.	N/A	Intron Variant
FYB transcript variant X9	XM_011514012.2:c.	N/A	Intron Variant
FYB transcript variant X10	XM_011514013.2:c.	N/A	Intron Variant
FYB1 transcript variant X7	XM_017009316.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.309	G=0.691
1000Genomes	American	Sub	694	A=0.090	G=0.910
1000Genomes	East Asian	Sub	1008	A=0.048	G=0.952
1000Genomes	Europe	Sub	1006	A=0.106	G=0.894
1000Genomes	Global	Study-wide	5008	A=0.143	G=0.857
1000Genomes	South Asian	Sub	978	A=0.090	G=0.910
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.100	G=0.900
The Genome Aggregation Database	African	Sub	8714	A=0.264	G=0.736
The Genome Aggregation Database	American	Sub	836	A=0.080	G=0.920
The Genome Aggregation Database	East Asian	Sub	1622	A=0.068	G=0.932
The Genome Aggregation Database	Europe	Sub	18500	A=0.129	G=0.870
The Genome Aggregation Database	Global	Study-wide	29974	A=0.163	G=0.836
The Genome Aggregation Database	Other	Sub	302	A=0.110	G=0.890
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.171	G=0.828
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.104	G=0.896

PMID	Title	Author	Journal
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

SNP ID	p-value	Traits	Study
rs696748	1.53E-05	alcohol and nictotine co-dependence	20158304

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 )
chr5	39192690	39192773	E067	-20923
chr5	39192001	39192246	E069	-21450
chr5	39192001	39192246	E071	-21450
chr5	39192690	39192773	E071	-20923
chr5	39192690	39192773	E072	-20923
chr5	39192001	39192246	E074	-21450
chr5	39192690	39192773	E074	-20923
chr5	39212463	39212523	E074	-1173
chr5	39212582	39212746	E074	-950
chr5	39219568	39219915	E081	5872
chr5	39224298	39224829	E081	10602

rs696748