SNP Detail Info-rs716623

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

GPC5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0385 (11547/29920,GnomAD)
G=0427 (12448/29118,TOPMED)
G=0423 (2119/5008,1000G)
G=0394 (1518/3854,ALSPAC)
G=0388 (1439/3708,TWINSUK)

Position: chr13:92329669 (GRCh38.p7) (13q31.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
GPC5 transcript	NM_004466.5:c.	N/A	Intron Variant
GPC5 transcript variant X1	XM_017020435.1:c.	N/A	Intron Variant
GPC5 transcript variant X2	XM_011521054.2:c.	N/A	Genic Downstream Transcript Variant
GPC5 transcript variant X4	XM_011521055.2:c.	N/A	Genic Downstream Transcript Variant
GPC5 transcript variant X5	XM_011521056.2:c.	N/A	Genic Downstream Transcript Variant
GPC5 transcript variant X7	XM_011521057.2:c.	N/A	Genic Downstream Transcript Variant
GPC5 transcript variant X6	XM_011521058.2:c.	N/A	Genic Downstream Transcript Variant
GPC5 transcript variant X9	XM_011521059.2:c.	N/A	Genic Downstream Transcript Variant
GPC5 transcript variant X10	XM_011521060.2:c.	N/A	Genic Downstream Transcript Variant
GPC5 transcript variant X3	XM_017020436.1:c.	N/A	Genic Downstream Transcript Variant
GPC5 transcript variant X8	XM_017020437.1:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.513	G=0.487
1000Genomes	American	Sub	694	A=0.710	G=0.290
1000Genomes	East Asian	Sub	1008	A=0.611	G=0.389
1000Genomes	Europe	Sub	1006	A=0.594	G=0.406
1000Genomes	Global	Study-wide	5008	A=0.577	G=0.423
1000Genomes	South Asian	Sub	978	A=0.520	G=0.480
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.606	G=0.394
The Genome Aggregation Database	African	Sub	8714	A=0.540	G=0.460
The Genome Aggregation Database	American	Sub	836	A=0.650	G=0.350
The Genome Aggregation Database	East Asian	Sub	1604	A=0.606	G=0.394
The Genome Aggregation Database	Europe	Sub	18464	A=0.649	G=0.350
The Genome Aggregation Database	Global	Study-wide	29920	A=0.614	G=0.385
The Genome Aggregation Database	Other	Sub	302	A=0.540	G=0.460
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.572	G=0.427
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.612	G=0.388

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
rs716623	5.26E-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

rs716623