SNP Detail Info-rs11065750

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CCDC63 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0084 (2538/29948,GnomAD)
A=0076 (2237/29118,TOPMED)
A=0119 (598/5008,1000G)
G==0072 (329/4566,GO-ESP)
A=0074 (285/3854,ALSPAC)
A=0063 (233/3708,TWINSUK)

Position: chr12:110893212 (GRCh38.p7) (12q24.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 7 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.110893212G>A
GRCh37.p13 chr 12	NC_000012.11:g.111331016G>A

Gene: CCDC63, coiled-coil domain containing 63(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CCDC63 transcript variant 2	NM_001286243.1:c.	N/A	Intron Variant
CCDC63 transcript variant 3	NM_001286244.1:c.	N/A	Intron Variant
CCDC63 transcript variant 1	NM_152591.2:c.	N/A	Intron Variant
CCDC63 transcript variant X1	XM_006719262.1:c.	N/A	Intron Variant
CCDC63 transcript variant X4	XM_006719263.2:c.	N/A	Intron Variant
CCDC63 transcript variant X2	XM_011537999.1:c.	N/A	Intron Variant
CCDC63 transcript variant X3	XM_011538001.2:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.918	A=0.082
1000Genomes	American	Sub	694	G=0.970	A=0.030
1000Genomes	East Asian	Sub	1008	G=0.799	A=0.201
1000Genomes	Europe	Sub	1006	G=0.924	A=0.076
1000Genomes	Global	Study-wide	5008	G=0.881	A=0.119
1000Genomes	South Asian	Sub	978	G=0.810	A=0.190
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.926	A=0.074
The Genome Aggregation Database	African	Sub	8714	G=0.909	A=0.091
The Genome Aggregation Database	American	Sub	836	G=0.960	A=0.040
The Genome Aggregation Database	East Asian	Sub	1610	G=0.755	A=0.245
The Genome Aggregation Database	Europe	Sub	18486	G=0.929	A=0.070
The Genome Aggregation Database	Global	Study-wide	29948	G=0.915	A=0.084
The Genome Aggregation Database	Other	Sub	302	G=0.950	A=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.923	A=0.076
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.937	A=0.063

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs11065750	2.96E-10	alcohol consumption (maxi-drinks)	24277619
rs11065750	0.00003	alcohol dependence	24277619

eQTL of rs11065750 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs11065750 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr12	111332789	111332866	E070	1773
chr12	111282676	111283128	E081	-47888
chr12	111283183	111283356	E081	-47660
chr12	111283375	111283557	E081	-47459
chr12	111316432	111316650	E081	-14366
chr12	111282676	111283128	E082	-47888
chr12	111283183	111283356	E082	-47660

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	111325626	111326352	E067	-4664
chr12	111325626	111326352	E068	-4664
chr12	111325626	111326352	E069	-4664
chr12	111284403	111285259	E070	-45757
chr12	111325471	111325541	E071	-5475
chr12	111325626	111326352	E071	-4664
chr12	111325626	111326352	E072	-4664
chr12	111325626	111326352	E073	-4664
chr12	111325626	111326352	E074	-4664
chr12	111325626	111326352	E082	-4664

rs11065750

Genomic Coordinates

Gene: CCDC63, coiled-coil domain containing 63(plus strand)

Population Frequency

P-Value

eQTL of rs11065750 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs11065750 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)