SNP Detail Info-rs1117507

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

SPINK14 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0396 (11862/29918,GnomAD)
G=0367 (10703/29118,TOPMED)
G=0291 (1455/5008,1000G)
A==0500 (1926/3854,ALSPAC)
A==0488 (1809/3708,TWINSUK)

Position: chr5:148157593 (GRCh38.p7) (5q32)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.148157593A>G
GRCh37.p13 chr 5	NC_000005.9:g.147537156A>G

Molecule type	Change	Amino acid[Codon]	SO Term
SPINK14 transcript	NM_001001325.2:c.	N/A	Genic Upstream Transcript Variant
SPINK14 transcript variant X3	XM_017009466.1:c.	N/A	Intron Variant
SPINK14 transcript variant X4	XM_017009468.1:c.	N/A	Intron Variant
SPINK14 transcript variant X1	XM_017009469.1:c.	N/A	Genic Upstream Transcript Variant
SPINK14 transcript variant X1	XM_017009467.1:c.	N/A	Genic Downstream Transcript Variant
SPINK14 transcript variant X2	XR_944398.2:n.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.808	G=0.192
1000Genomes	American	Sub	694	A=0.660	G=0.340
1000Genomes	East Asian	Sub	1008	A=0.914	G=0.086
1000Genomes	Europe	Sub	1006	A=0.473	G=0.527
1000Genomes	Global	Study-wide	5008	A=0.709	G=0.291
1000Genomes	South Asian	Sub	978	A=0.650	G=0.350
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.500	G=0.500
The Genome Aggregation Database	African	Sub	8710	A=0.755	G=0.245
The Genome Aggregation Database	American	Sub	838	A=0.680	G=0.320
The Genome Aggregation Database	East Asian	Sub	1618	A=0.896	G=0.104
The Genome Aggregation Database	Europe	Sub	18450	A=0.505	G=0.494
The Genome Aggregation Database	Global	Study-wide	29918	A=0.603	G=0.396
The Genome Aggregation Database	Other	Sub	302	A=0.420	G=0.580
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.632	G=0.367
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.488	G=0.512

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs1117507	0.00072	alcohol dependence	20201924

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

rs1117507