PRKCSH, protein kinase C substrate 80K-H, 5589

N. diseases: 44; N. variants: 5
Disease: Polycystic Kidney, Autosomal Dominant ×
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: rs746231889
rs746231889 		1.000 0.120 19 11447152 missense variant C/A;G;T snv 4.0E-06; 1.9E-04
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2005 2005