NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Familial aplasia of the vermis ×
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: rs755276263
rs755276263 		1.000 0.160 2 110123979 missense variant G/T snv 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.010 < 0.001 1 2007 2007