CEP164, centrosomal protein 164, 22897

N. diseases: 33; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12797557
rs12797557
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C0428883
Disease:
Diastolic blood pressure
A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs573455
rs573455
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs573455
rs573455
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs192489212
rs192489212
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C0392885
Disease:
High density lipoprotein measurement
C 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs778819060
rs778819060
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
A 0.700 GeneticVariation CLINVAR Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
dbSNP: rs145646425
rs145646425
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
T 0.700 CausalMutation CLINVAR
dbSNP: rs147398904
rs147398904
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
T 0.700 CausalMutation CLINVAR
dbSNP: rs1565582604
rs1565582604
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1565649749
rs1565649749
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
C 0.700 CausalMutation CLINVAR
dbSNP: rs387907309
rs387907309
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
C 0.700 CausalMutation CLINVAR
dbSNP: rs387907310
rs387907310
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
T 0.700 CausalMutation CLINVAR
dbSNP: rs387907311
rs387907311
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
T 0.700 CausalMutation CLINVAR
dbSNP: rs747914869
rs747914869
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
AC 0.700 CausalMutation CLINVAR
dbSNP: rs764893412
rs764893412
Entrez Id: 22897
Gene Symbol: CEP164
CEP164
CUI: C3541853
Disease:
NEPHRONOPHTHISIS 15
T 0.700 CausalMutation CLINVAR