CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
Disease: Keratoconus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4434401
rs4434401
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0022578
Disease:
Keratoconus 		0.020 GeneticVariation BEFREE SNP rs4434401, whose contribution to KC susceptibility has been established in Caucasians, still kept its effect in our population. 29428799 2018
dbSNP: rs4434401
rs4434401
Entrez Id: 831
Gene Symbol: CAST
CAST
CUI: C0022578
Disease:
Keratoconus 		0.020 GeneticVariation BEFREE Additional genotyping of 12 tightly spaced SNPs identified CAST SNP rs4434401 to be associated with KC in both familial and case-control panels with P values of 0.005 and 0.05, respectively, and with combined meta P value of familial and case-control cohorts of 0.002 or after Bonferroni correction of 0.04. 23449483 2013