NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst ×
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: rs182135982
rs182135982 		0.851 0.240 3 132699988 stop gained C/A;T snv 8.0E-06; 5.2E-05
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs781180515
rs781180515 		1.000 0.160 3 132692787 missense variant C/G;T snv 4.0E-06 4.9E-05
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs751527253
rs751527253 		0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs119456962
rs119456962 		1.000 0.160 3 132700348 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs780020801
rs780020801 		1.000 0.160 3 132683476 stop gained G/A snv 8.0E-06
CUI: C2673885
Disease: Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hepatic pancreatic dysplasia Dandy Walker cyst 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases 0.700 0