rs2853669, TERT

N. diseases: 35
Disease: Steroid Sulfatase Deficiency Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Steroid Sulfatase Deficiency Disease
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
0.010 GeneticVariation BEFREE The variant C allele of rs2853669 was found in 54.8% (34/62) of all STSs and in 75% (3/4) of TERT-mutated cases. 26391479 2016