rs4761605

Homo sapiens
C>T
CEP83 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0088 (2655/29948,GnomAD)
T=0092 (2689/29118,TOPMED)
T=0076 (381/5008,1000G)
T=0116 (447/3854,ALSPAC)
T=0112 (417/3708,TWINSUK)
chr12:94335801 (GRCh38.p7) (12q22)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.94335801C>T
GRCh37.p13 chr 12NC_000012.11:g.94729577C>T

Gene: CEP83, centrosomal protein 83(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CEP83 transcript variant 2NM_001042399.1:c.N/AIntron Variant
CEP83 transcript variant 1NM_016122.2:c.N/AIntron Variant
CEP83 transcript variant X10XM_006719437.2:c.N/AIntron Variant
CEP83 transcript variant X2XM_011538424.1:c.N/AIntron Variant
CEP83 transcript variant X12XM_011538427.2:c.N/AIntron Variant
CEP83 transcript variant X16XM_011538429.2:c.N/AIntron Variant
CEP83 transcript variant X8XM_017019385.1:c.N/AIntron Variant
CEP83 transcript variant X9XM_017019386.1:c.N/AIntron Variant
CEP83 transcript variant X13XM_017019387.1:c.N/AIntron Variant
CEP83 transcript variant X12XM_017019388.1:c.N/AIntron Variant
CEP83 transcript variant X15XM_017019389.1:c.N/AIntron Variant
CEP83 transcript variant X1XR_001748731.1:n.N/AIntron Variant
CEP83 transcript variant X3XR_001748732.1:n.N/AIntron Variant
CEP83 transcript variant X4XR_001748733.1:n.N/AIntron Variant
CEP83 transcript variant X5XR_001748734.1:n.N/AIntron Variant
CEP83 transcript variant X6XR_001748735.1:n.N/AIntron Variant
CEP83 transcript variant X7XR_001748736.1:n.N/AIntron Variant
CEP83 transcript variant X11XR_001748737.1:n.N/AIntron Variant
CEP83 transcript variant X17XR_001748738.1:n.N/AIntron Variant
CEP83 transcript variant X18XR_001748739.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.962T=0.038
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.941T=0.059
1000GenomesEuropeSub1006C=0.879T=0.121
1000GenomesGlobalStudy-wide5008C=0.924T=0.076
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.884T=0.116
The Genome Aggregation DatabaseAfricanSub8728C=0.958T=0.042
The Genome Aggregation DatabaseAmericanSub836C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1618C=0.943T=0.057
The Genome Aggregation DatabaseEuropeSub18466C=0.890T=0.109
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.911T=0.088
The Genome Aggregation DatabaseOtherSub300C=0.870T=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.907T=0.092
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.888T=0.112
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs47616051.64E-05alcohol dependence19581569

eQTL of rs4761605 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 rs4761605 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 )
chr129468319194684503E067-45074
chr129467991094680004E068-49573
chr129468004294680117E068-49460
chr129468014294680240E068-49337
chr129468031994680369E068-49208
chr129468049994681277E068-48300
chr129467980194679849E070-49728
chr129467991094680004E070-49573
chr129468004294680117E070-49460
chr129468014294680240E070-49337
chr129468031994680369E070-49208
chr129468049994681277E070-48300
chr129468136094681533E070-48044
chr129468319194684503E070-45074
chr129468466294684799E070-44778
chr129468482994684877E070-44700
chr129469803094698114E070-31463
chr129469829294699706E070-29871
chr129473560994735690E0706032
chr129468319194684503E074-45074
chr129468319194684503E081-45074
chr129468004294680117E082-49460
chr129468014294680240E082-49337
chr129468031994680369E082-49208
chr129468049994681277E082-48300