SNP Detail Info-rs6483362

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

GRM5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0144 (4333/29898,GnomAD)
A==0165 (4817/29118,TOPMED)
A==0150 (750/5008,1000G)
A==0083 (319/3854,ALSPAC)
A==0075 (277/3708,TWINSUK)

Position: chr11:88679283 (GRCh38.p7) (11q14.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 22 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.88679283A>G
GRCh37.p13 chr 11	NC_000011.9:g.88412451A>G

Molecule type	Change	Amino acid[Codon]	SO Term
GRM5 transcript variant b	NM_000842.4:c.	N/A	Intron Variant
GRM5 transcript variant a	NM_001143831.2:c.	N/A	Intron Variant
GRM5 transcript variant X1	XM_006718828.3:c.	N/A	Intron Variant
GRM5 transcript variant X2	XM_011542792.1:c.	N/A	Intron Variant
GRM5 transcript variant X3	XM_017017627.1:c.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.342	G=0.658
1000Genomes	American	Sub	694	A=0.100	G=0.900
1000Genomes	East Asian	Sub	1008	A=0.097	G=0.903
1000Genomes	Europe	Sub	1006	A=0.091	G=0.909
1000Genomes	Global	Study-wide	5008	A=0.150	G=0.850
1000Genomes	South Asian	Sub	978	A=0.040	G=0.960
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.083	G=0.917
The Genome Aggregation Database	African	Sub	8696	A=0.275	G=0.725
The Genome Aggregation Database	American	Sub	836	A=0.080	G=0.920
The Genome Aggregation Database	East Asian	Sub	1594	A=0.111	G=0.889
The Genome Aggregation Database	Europe	Sub	18470	A=0.091	G=0.908
The Genome Aggregation Database	Global	Study-wide	29898	A=0.144	G=0.855
The Genome Aggregation Database	Other	Sub	302	A=0.050	G=0.950
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.165	G=0.834
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.075	G=0.925

PMID	Title	Author	Journal
22965006	Predicting the diagnosis of autism spectrum disorder using gene pathway analysis.	Skafidas E	Mol Psychiatry
20202923	A genome-wide association study of alcohol dependence.	Bierut LJ	Proc Natl Acad Sci U S A
21956439	Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.	Zuo L	Neuropsychopharmacology

SNP ID	p-value	Traits	Study
rs6483362	0.00016	alcohol dependence	21956439

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 )
chr11	88442485	88442529	E067	30034
chr11	88442654	88443253	E067	30203
chr11	88442485	88442529	E068	30034
chr11	88442654	88443253	E068	30203
chr11	88443328	88443630	E068	30877
chr11	88442485	88442529	E069	30034
chr11	88442654	88443253	E069	30203
chr11	88443328	88443630	E069	30877
chr11	88442485	88442529	E071	30034
chr11	88442654	88443253	E071	30203
chr11	88443328	88443630	E071	30877
chr11	88442485	88442529	E072	30034
chr11	88442654	88443253	E072	30203
chr11	88442485	88442529	E073	30034
chr11	88442654	88443253	E073	30203
chr11	88442485	88442529	E074	30034
chr11	88442654	88443253	E074	30203
chr11	88443328	88443630	E074	30877
chr11	88442654	88443253	E081	30203
chr11	88448894	88449236	E081	36443
chr11	88449281	88449331	E081	36830
chr11	88454169	88454321	E081	41718

rs6483362