rs2238149

Homo sapiens
T>C
CCDC63 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0320 (9561/29844,GnomAD)
C=0359 (10452/29118,TOPMED)
C=0311 (1555/5008,1000G)
C=0293 (1130/3854,ALSPAC)
C=0270 (1002/3708,TWINSUK)
chr12:110874125 (GRCh38.p7) (12q24.11)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.110874125T>C
GRCh37.p13 chr 12NC_000012.11:g.111311929T>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=0.507C=0.493
1000GenomesAmericanSub694T=0.650C=0.350
1000GenomesEast AsianSub1008T=0.851C=0.149
1000GenomesEuropeSub1006T=0.702C=0.298
1000GenomesGlobalStudy-wide5008T=0.689C=0.311
1000GenomesSouth AsianSub978T=0.790C=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.707C=0.293
The Genome Aggregation DatabaseAfricanSub8658T=0.556C=0.444
The Genome Aggregation DatabaseAmericanSub832T=0.700C=0.300
The Genome Aggregation DatabaseEast AsianSub1606T=0.836C=0.164
The Genome Aggregation DatabaseEuropeSub18446T=0.721C=0.279
The Genome Aggregation DatabaseGlobalStudy-wide29844T=0.679C=0.320
The Genome Aggregation DatabaseOtherSub302T=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.641C=0.359
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.730C=0.270
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
rs22381491.06E-06alcohol consumption (maxi-drinks)24277619

eQTL of rs2238149 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 rs2238149 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 )
chr12111332789111332866E07020860
chr12111264396111265065E072-46864
chr12111264396111265065E073-46864
chr12111264396111265065E074-46864
chr12111282676111283128E081-28801
chr12111283183111283356E081-28573
chr12111283375111283557E081-28372
chr12111316432111316650E0814503
chr12111282676111283128E082-28801
chr12111283183111283356E082-28573






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12111325626111326352E06713697
chr12111325626111326352E06813697
chr12111325626111326352E06913697
chr12111284403111285259E070-26670
chr12111325471111325541E07113542
chr12111325626111326352E07113697
chr12111325626111326352E07213697
chr12111325626111326352E07313697
chr12111325626111326352E07413697
chr12111325626111326352E08213697