NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs751527253
rs751527253
0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04
CUI: C0037221
Disease: Situs Inversus
Situs Inversus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2008 2016