rs11065750

Homo sapiens
G>A
CCDC63 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
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)
chr12:110893212 (GRCh38.p7) (12q24.11)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.110893212G>A
GRCh37.p13 chr 12NC_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 2NM_001286243.1:c.N/AIntron Variant
CCDC63 transcript variant 3NM_001286244.1:c.N/AIntron Variant
CCDC63 transcript variant 1NM_152591.2:c.N/AIntron Variant
CCDC63 transcript variant X1XM_006719262.1:c.N/AIntron Variant
CCDC63 transcript variant X4XM_006719263.2:c.N/AIntron Variant
CCDC63 transcript variant X2XM_011537999.1:c.N/AIntron Variant
CCDC63 transcript variant X3XM_011538001.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.918A=0.082
1000GenomesAmericanSub694G=0.970A=0.030
1000GenomesEast AsianSub1008G=0.799A=0.201
1000GenomesEuropeSub1006G=0.924A=0.076
1000GenomesGlobalStudy-wide5008G=0.881A=0.119
1000GenomesSouth AsianSub978G=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.926A=0.074
The Genome Aggregation DatabaseAfricanSub8714G=0.909A=0.091
The Genome Aggregation DatabaseAmericanSub836G=0.960A=0.040
The Genome Aggregation DatabaseEast AsianSub1610G=0.755A=0.245
The Genome Aggregation DatabaseEuropeSub18486G=0.929A=0.070
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.915A=0.084
The Genome Aggregation DatabaseOtherSub302G=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.923A=0.076
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.937A=0.063
PMID Title Author Journal
24277619ALDH2 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 EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs110657502.96E-10alcohol consumption (maxi-drinks)24277619
rs110657500.00003alcohol dependence24277619

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

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr12111332789111332866E0701773
chr12111282676111283128E081-47888
chr12111283183111283356E081-47660
chr12111283375111283557E081-47459
chr12111316432111316650E081-14366
chr12111282676111283128E082-47888
chr12111283183111283356E082-47660



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12111325626111326352E067-4664
chr12111325626111326352E068-4664
chr12111325626111326352E069-4664
chr12111284403111285259E070-45757
chr12111325471111325541E071-5475
chr12111325626111326352E071-4664
chr12111325626111326352E072-4664
chr12111325626111326352E073-4664
chr12111325626111326352E074-4664
chr12111325626111326352E082-4664