SNP Detail Info-rs6701268

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

CSMD2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0172 (5156/29880,GnomAD)
G=0195 (5696/29118,TOPMED)
G=0172 (862/5008,1000G)
G=0170 (654/3854,ALSPAC)
G=0166 (617/3708,TWINSUK)

Position: chr1:33575591 (GRCh38.p7) (1p35.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.33575591T>G
GRCh37.p13 chr 1	NC_000001.10:g.34041191T>G

Molecule type	Change	Amino acid[Codon]	SO Term
CSMD2 transcript variant 1	NM_001281956.1:c.	N/A	Intron Variant
CSMD2 transcript variant 2	NM_052896.4:c.	N/A	Intron Variant
CSMD2 transcript variant X1	XM_017000185.1:c.	N/A	Intron Variant
CSMD2 transcript variant X2	XM_017000186.1:c.	N/A	Intron Variant
CSMD2 transcript variant X3	XM_017000187.1:c.	N/A	Intron Variant
CSMD2 transcript variant X4	XM_017000188.1:c.	N/A	Intron Variant
CSMD2 transcript variant X5	XM_017000189.1:c.	N/A	Intron Variant
CSMD2 transcript variant X6	XM_017000190.1:c.	N/A	Intron Variant
CSMD2 transcript variant X7	XM_017000191.1:c.	N/A	Intron Variant
CSMD2 transcript variant X10	XM_017000194.1:c.	N/A	Intron Variant
CSMD2 transcript variant X8	XM_017000192.1:c.	N/A	Genic Downstream Transcript Variant
CSMD2 transcript variant X9	XM_017000193.1:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.753	G=0.247
1000Genomes	American	Sub	694	T=0.900	G=0.100
1000Genomes	East Asian	Sub	1008	T=0.974	G=0.026
1000Genomes	Europe	Sub	1006	T=0.845	G=0.155
1000Genomes	Global	Study-wide	5008	T=0.828	G=0.172
1000Genomes	South Asian	Sub	978	T=0.710	G=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.830	G=0.170
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.804	G=0.195
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.834	G=0.166

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
rs6701268	0.00022	alcohol dependence	20201924
rs6701268	0.00099	Alcohol dependence (early age of onset)	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 )
chr1	34081265	34081511	E070	40074
chr1	34038209	34038312	E081	-2879

rs6701268