SNP Detail Info-rs4966017

Organism: Homo sapiens

Alleles: T>A / T>C / T>G

Gene : Feature

IGF1R : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0119 (3586/29922,GnomAD)
T==0137 (4014/29118,TOPMED)
T==0168 (839/5008,1000G)
T==0061 (236/3854,ALSPAC)
T==0066 (243/3708,TWINSUK)

Position: chr15:98724404 (GRCh38.p7) (15q26.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 8 Enhancers around

Promoter: 14 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
IGF1R transcript variant 1	NM_000875.4:c.	N/A	Intron Variant
IGF1R transcript variant 2	NM_001291858.1:c.	N/A	Intron Variant
IGF1R transcript variant X1	XM_017022136.1:c.	N/A	Intron Variant
IGF1R transcript variant X2	XM_017022137.1:c.	N/A	Intron Variant
IGF1R transcript variant X3	XM_017022138.1:c.	N/A	Intron Variant
IGF1R transcript variant X4	XM_017022139.1:c.	N/A	Intron Variant
IGF1R transcript variant X6	XM_011521516.2:c.	N/A	Genic Upstream Transcript Variant
IGF1R transcript variant X7	XM_011521517.2:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.217	G=0.783
1000Genomes	American	Sub	694	T=0.220	G=0.780
1000Genomes	East Asian	Sub	1008	T=0.196	G=0.804
1000Genomes	Europe	Sub	1006	T=0.072	G=0.928
1000Genomes	Global	Study-wide	5008	T=0.168	G=0.832
1000Genomes	South Asian	Sub	978	T=0.130	G=0.870
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.061	G=0.939
The Genome Aggregation Database	African	Sub	8696	T=0.189	G=0.811
The Genome Aggregation Database	American	Sub	838	T=0.230	G=0.770
The Genome Aggregation Database	East Asian	Sub	1616	T=0.202	G=0.798
The Genome Aggregation Database	Europe	Sub	18470	T=0.076	G=0.923
The Genome Aggregation Database	Global	Study-wide	29922	T=0.119	G=0.880
The Genome Aggregation Database	Other	Sub	302	T=0.060	G=0.940
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.137	G=0.862
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.066	G=0.934

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
rs4966017	0.000064	alcoholism	pha002891
rs4966017	0.000064	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr15	85832815	85832873	E067	37197
chr15	85832874	85833298	E070	37256
chr15	85833365	85833730	E070	37747
chr15	85833914	85833976	E070	38296
chr15	85834142	85834215	E070	38524
chr15	85839720	85840532	E070	44102
chr15	85839558	85839630	E074	43940
chr15	85833914	85833976	E082	38296

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr15	85777815	85777917	E068	-17701
chr15	85778190	85778270	E068	-17348
chr15	85777189	85777260	E070	-18358
chr15	85777368	85777429	E070	-18189
chr15	85777815	85777917	E070	-17701
chr15	85777368	85777429	E071	-18189
chr15	85777815	85777917	E071	-17701
chr15	85778190	85778270	E071	-17348
chr15	85777050	85777104	E082	-18514
chr15	85777189	85777260	E082	-18358
chr15	85777368	85777429	E082	-18189
chr15	85777815	85777917	E082	-17701
chr15	85778190	85778270	E082	-17348
chr15	85778441	85778500	E082	-17118

rs4966017