SNP Detail Info-rs6996697

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CSMD3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0096 (2895/29924,GnomAD)
G=0092 (2678/29118,TOPMED)
G=0093 (468/5008,1000G)
G=0128 (493/3854,ALSPAC)
G=0119 (440/3708,TWINSUK)

Position: chr8:113262046 (GRCh38.p7) (8q23.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.113262046A>G
GRCh37.p13 chr 8	NC_000008.10:g.114274275A>G

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	A=0.959	G=0.041
1000Genomes	American	Sub	694	A=0.910	G=0.090
1000Genomes	East Asian	Sub	1008	A=0.930	G=0.070
1000Genomes	Europe	Sub	1006	A=0.835	G=0.165
1000Genomes	Global	Study-wide	5008	A=0.907	G=0.093
1000Genomes	South Asian	Sub	978	A=0.880	G=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.872	G=0.128
The Genome Aggregation Database	African	Sub	8722	A=0.948	G=0.052
The Genome Aggregation Database	American	Sub	836	A=0.920	G=0.080
The Genome Aggregation Database	East Asian	Sub	1618	A=0.919	G=0.081
The Genome Aggregation Database	Europe	Sub	18446	A=0.881	G=0.118
The Genome Aggregation Database	Global	Study-wide	29924	A=0.903	G=0.096
The Genome Aggregation Database	Other	Sub	302	A=0.800	G=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.908	G=0.092
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.881	G=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
rs6996697	0.0004	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

rs6996697