Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473677
rs199473677
CTC1
A 0.700 CausalMutation CLINVAR Clinical utility gene card for: Dyskeratosis congenita - update 2015. 25182133

2015
dbSNP: rs199473677
rs199473677
CTC1
A 0.700 CausalMutation CLINVAR Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. 23869908

2013
dbSNP: rs199473677
rs199473677
CTC1
A 0.700 CausalMutation CLINVAR Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 22387016

2012
dbSNP: rs199473677
rs199473677
CTC1
A 0.700 CausalMutation CLINVAR Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 22267198

2012
dbSNP: rs1444923772
rs1444923772
CTC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs199473679
rs199473679
CTC1
A 0.700 GeneticVariation CLINVAR