SNP Detail Info-rs10505201

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CSMD3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0090 (2705/29852,GnomAD)
A=0087 (436/5008,1000G)
A=0128 (494/3854,ALSPAC)
A=0119 (440/3708,TWINSUK)

Position: chr8:113214414 (GRCh38.p7) (8q23.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.113214414G>A
GRCh37.p13 chr 8	NC_000008.10:g.114226643G>A

Molecule type	Change	Amino acid[Codon]	SO Term
CSMD3 transcript variant c	NM_052900.2:c.	N/A	Intron Variant
CSMD3 transcript variant a	NM_198123.1:c.	N/A	Intron Variant
CSMD3 transcript variant b	NM_198124.1:c.	N/A	Intron Variant
CSMD3 transcript variant X3	XM_011516816.2:c.	N/A	Intron Variant
CSMD3 transcript variant X1	XM_017013008.1:c.	N/A	Intron Variant
CSMD3 transcript variant X2	XM_017013009.1:c.	N/A	Intron Variant
CSMD3 transcript variant X4	XM_017013010.1:c.	N/A	Intron Variant
CSMD3 transcript variant X5	XM_017013011.1:c.	N/A	Intron Variant
CSMD3 transcript variant X7	XM_011516815.2:c.	N/A	Genic Upstream Transcript Variant
CSMD3 transcript variant X6	XM_017013012.1:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.987	A=0.013
1000Genomes	American	Sub	694	G=0.910	A=0.090
1000Genomes	East Asian	Sub	1008	G=0.930	A=0.070
1000Genomes	Europe	Sub	1006	G=0.831	A=0.169
1000Genomes	Global	Study-wide	5008	G=0.913	A=0.087
1000Genomes	South Asian	Sub	978	G=0.880	A=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.872	A=0.128
The Genome Aggregation Database	African	Sub	8716	G=0.970	A=0.030
The Genome Aggregation Database	American	Sub	836	G=0.920	A=0.080
The Genome Aggregation Database	East Asian	Sub	1576	G=0.920	A=0.080
The Genome Aggregation Database	Europe	Sub	18422	G=0.881	A=0.119
The Genome Aggregation Database	Global	Study-wide	29852	G=0.909	A=0.090
The Genome Aggregation Database	Other	Sub	302	G=0.800	A=0.200
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.881	A=0.119

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
rs10505201	0.00066	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 )
chr8	114213204	114213254	E070	-13389
chr8	114213204	114213254	E071	-13389
chr8	114214533	114214781	E074	-11862

rs10505201