INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Disease: Nephronophthisis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878855333
rs878855333
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C0687120
Disease:
Nephronophthisis 		G 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013