rs45517234, TSC2

N. diseases: 2
Disease: Keratoconus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Keratoconus
CUI: C0022578
Disease: Keratoconus
0.010 GeneticVariation BEFREE A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC. 29261847 2017