rs4142224

Homo sapiens
C>T
CCDC93 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0036 (1087/29978,GnomAD)
T=0032 (947/29116,TOPMED)
T=0074 (371/5008,1000G)
T=0037 (141/3854,ALSPAC)
T=0039 (144/3708,TWINSUK)
chr2:117958614 (GRCh38.p7) (2q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
12 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.117958614C>T
GRCh37.p13 chr 2NC_000002.11:g.118716190C>T

Gene: CCDC93, coiled-coil domain containing 93(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CCDC93 transcriptNM_019044.4:c.N/AIntron Variant
CCDC93 transcript variant X5XM_006712600.2:c.N/AIntron Variant
CCDC93 transcript variant X1XM_011511359.1:c.N/AIntron Variant
CCDC93 transcript variant X2XM_011511361.1:c.N/AIntron Variant
CCDC93 transcript variant X3XM_011511362.1:c.N/AIntron Variant
CCDC93 transcript variant X4XM_011511363.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.995T=0.005
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.883T=0.117
1000GenomesEuropeSub1006C=0.954T=0.046
1000GenomesGlobalStudy-wide5008C=0.926T=0.074
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.963T=0.037
The Genome Aggregation DatabaseAfricanSub8730C=0.990T=0.010
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1620C=0.915T=0.085
The Genome Aggregation DatabaseEuropeSub18490C=0.956T=0.043
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.963T=0.036
The Genome Aggregation DatabaseOtherSub300C=0.980T=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.967T=0.032
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.961T=0.039
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs41422240.000183alcohol dependence21314694

eQTL of rs4142224 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 rs4142224 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 )
chr2118736981118737041E06720791
chr2118737512118739176E06821322
chr2118744876118744936E06928686
chr2118745101118745212E06928911
chr2118736981118737041E07120791
chr2118737512118739176E07121322
chr2118736981118737041E07220791
chr2118760847118761336E07244657
chr2118736981118737041E07420791
chr2118737512118739176E07421322
chr2118744876118744936E07428686
chr2118745101118745212E07428911