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: 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: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2008 2016
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: 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
dbSNP: rs119456959
rs119456959 		0.925 0.080 3 132682077 inframe deletion CCT/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs142021049
rs142021049 		1.000 0.080 3 132708219 missense variant T/C snv 1.9E-03 2.1E-03
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs17348614
rs17348614 		3 132692324 intron variant C/T snv 4.4E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs17348614
rs17348614 		3 132692324 intron variant C/T snv 4.4E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs201237799
rs201237799 		1.000 0.080 3 132691199 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs202048210
rs202048210 		1.000 0.080 3 132683433 missense variant G/A snv 2.7E-04 1.1E-04
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs267606916
rs267606916 		0.925 0.080 3 132696798 stop gained G/A snv 4.8E-05 1.0E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs572076167
rs572076167 		3 132716018 intron variant T/C;G snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs755094682
rs755094682 		1.000 0.080 3 132708186 missense variant C/T snv 1.2E-04 2.8E-05
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs771742823
rs771742823 		1.000 0.080 3 132719800 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057521090
rs1057521090 		1.000 0.080 3 132684702 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1060499938
rs1060499938 		0.925 0.080 3 132683487 frameshift variant G/- del
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1060499938
rs1060499938 		0.925 0.080 3 132683487 frameshift variant G/- del
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs119456959
rs119456959 		0.925 0.080 3 132682077 inframe deletion CCT/- delins
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs119456960
rs119456960 		1.000 0.080 3 132713165 missense variant C/G snv
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs119456961
rs119456961 		1.000 0.080 3 132704341 stop gained C/A snv 2.0E-05
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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: 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: rs143451766
rs143451766 		1.000 0.080 3 132682759 missense variant G/C snv 7.0E-04 6.4E-04
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1485445500
rs1485445500 		0.925 0.160 3 132708202 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1485445500
rs1485445500 		0.925 0.160 3 132708202 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0