NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 ×
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: rs119456963
rs119456963 		1.000 3 132688857 missense variant C/T snv 1.6E-05
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.800 0
dbSNP: rs751527253
rs751527253 		0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 1.000 3 2008 2016
dbSNP: rs119456964
rs119456964 		1.000 3 132684784 stop gained G/A snv
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 0
dbSNP: rs182135982
rs182135982 		0.851 0.240 3 132699988 stop gained C/A;T snv 8.0E-06; 5.2E-05
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 0
dbSNP: rs754508002
rs754508002 		1.000 3 132699348 splice region variant C/A;T snv 8.0E-06; 8.0E-06
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 0