rs10849915

Homo sapiens
T>C
CCDC63 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0387 (11600/29938,GnomAD)
C=0419 (12213/29118,TOPMED)
C=0371 (1859/5008,1000G)
C=0348 (1342/3854,ALSPAC)
C=0327 (1214/3708,TWINSUK)
chr12:110895818 (GRCh38.p7) (12q24.11)
AD
GWASdb2
2   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.110895818T>C
GRCh37.p13 chr 12NC_000012.11:g.111333622T>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=0.444C=0.556
1000GenomesAmericanSub694T=0.590C=0.410
1000GenomesEast AsianSub1008T=0.796C=0.204
1000GenomesEuropeSub1006T=0.652C=0.348
1000GenomesGlobalStudy-wide5008T=0.629C=0.371
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 DatabaseAfricanSub8696T=0.478C=0.522
The Genome Aggregation DatabaseAmericanSub836T=0.620C=0.380
The Genome Aggregation DatabaseEast AsianSub1618T=0.752C=0.248
The Genome Aggregation DatabaseEuropeSub18486T=0.660C=0.339
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.612C=0.387
The Genome Aggregation DatabaseOtherSub302T=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.580C=0.419
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.673C=0.327
PMID Title Author Journal
21270382Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.Baik IAm J Clin Nutr
25464127On the analysis of a repeated measure design in genome-wide association analysis.Lee YInt J Environ Res Public Health

P-Value

SNP ID p-value Traits Study
rs108499151E-23alcohol consumption21270382

eQTL of rs10849915 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 rs10849915 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 )
chr12111332789111332866E070-756
chr12111316432111316650E081-16972


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12111325626111326352E067-7270
chr12111325626111326352E068-7270
chr12111325626111326352E069-7270
chr12111284403111285259E070-48363
chr12111325471111325541E071-8081
chr12111325626111326352E071-7270
chr12111325626111326352E072-7270
chr12111325626111326352E073-7270
chr12111325626111326352E074-7270
chr12111325626111326352E082-7270