rs1858881

Homo sapiens
T>C
CCDC63 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0360 (10767/29830,GnomAD)
C=0376 (10955/29118,TOPMED)
C=0339 (1696/5008,1000G)
C=0348 (1342/3854,ALSPAC)
C=0328 (1215/3708,TWINSUK)
chr12:110896313 (GRCh38.p7) (12q24.11)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.110896313T>C
GRCh37.p13 chr 12NC_000012.11:g.111334117T>C

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
1000GenomesAfricanSub1322T=0.561C=0.439
1000GenomesAmericanSub694T=0.600C=0.400
1000GenomesEast AsianSub1008T=0.796C=0.204
1000GenomesEuropeSub1006T=0.653C=0.347
1000GenomesGlobalStudy-wide5008T=0.661C=0.339
1000GenomesSouth AsianSub978T=0.710C=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.652C=0.348
The Genome Aggregation DatabaseAfricanSub8666T=0.567C=0.433
The Genome Aggregation DatabaseAmericanSub838T=0.630C=0.370
The Genome Aggregation DatabaseEast AsianSub1612T=0.752C=0.248
The Genome Aggregation DatabaseEuropeSub18412T=0.660C=0.339
The Genome Aggregation DatabaseGlobalStudy-wide29830T=0.639C=0.360
The Genome Aggregation DatabaseOtherSub302T=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.623C=0.376
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.672C=0.328
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
rs18588811.67E-09alcohol consumption (maxi-drinks)24277619
rs18588810.000018alcohol dependence24277619

eQTL of rs1858881 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 rs1858881 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 )
chr12111332789111332866E070-1251
chr12111316432111316650E081-17467


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12111325626111326352E067-7765
chr12111325626111326352E068-7765
chr12111325626111326352E069-7765
chr12111284403111285259E070-48858
chr12111325471111325541E071-8576
chr12111325626111326352E071-7765
chr12111325626111326352E072-7765
chr12111325626111326352E073-7765
chr12111325626111326352E074-7765
chr12111325626111326352E082-7765