SNP Detail Info-rs2131068

Organism: Homo sapiens

Alleles: T>A

Gene : Feature

GRM5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0008 (265/29962,GnomAD)
A=0016 (472/29118,TOPMED)
A=0020 (98/5008,1000G)
A=0011 (43/3854,ALSPAC)
A=0011 (42/3708,TWINSUK)

Position: chr11:88548038 (GRCh38.p7) (11q14.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 6 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.88548038T>A
GRCh37.p13 chr 11	NC_000011.9:g.88281206T>A

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	T=1.000	A=0.000
1000Genomes	American	Sub	694	T=0.910	A=0.090
1000Genomes	East Asian	Sub	1008	T=0.978	A=0.022
1000Genomes	Europe	Sub	1006	T=0.992	A=0.008
1000Genomes	Global	Study-wide	5008	T=0.980	A=0.020
1000Genomes	South Asian	Sub	978	T=0.990	A=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.989	A=0.011
The Genome Aggregation Database	African	Sub	8730	T=0.997	A=0.003
The Genome Aggregation Database	American	Sub	838	T=0.900	A=0.100
The Genome Aggregation Database	East Asian	Sub	1600	T=0.984	A=0.016
The Genome Aggregation Database	Europe	Sub	18492	T=0.993	A=0.007
The Genome Aggregation Database	Global	Study-wide	29962	T=0.991	A=0.008
The Genome Aggregation Database	Other	Sub	302	T=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.983	A=0.016
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.989	A=0.011

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
rs2131068	0.000709	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 )
chr11	88277262	88278032	E069	-3174
chr11	88254926	88255373	E071	-25833
chr11	88277262	88278032	E072	-3174

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	88241320	88243027	E068	-38179
chr11	88241320	88243027	E069	-38179
chr11	88241320	88243027	E070	-38179
chr11	88241320	88243027	E071	-38179
chr11	88241320	88243027	E074	-38179
chr11	88241320	88243027	E082	-38179

rs2131068