NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
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: rs765263671
rs765263671
1.000 0.080 2 110161686 stop gained G/A snv 2.0E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2008 2008
dbSNP: rs766524637
rs766524637
0.925 0.080 2 110168521 frameshift variant T/-;TT delins 2.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121907898
rs121907898
0.925 0.080 2 110201484 stop gained A/C;T snv 4.0E-06
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121907898
rs121907898
0.925 0.080 2 110201484 stop gained A/C;T snv 4.0E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121907899
rs121907899
0.925 0.080 2 110163048 missense variant C/A;T snv 4.0E-06; 1.2E-04
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs121907899
rs121907899
0.925 0.080 2 110163048 missense variant C/A;T snv 4.0E-06; 1.2E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1233478832
rs1233478832
1.000 0.080 2 110129185 splice donor variant C/A snv 4.0E-06 7.0E-06
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553484094
rs1553484094
1.000 0.080 2 110144560 frameshift variant TC/- delins
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs747861275
rs747861275
0.925 0.080 2 110146752 splice donor variant C/- del 8.0E-06
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs747861275
rs747861275
0.925 0.080 2 110146752 splice donor variant C/- del 8.0E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs766524637
rs766524637
0.925 0.080 2 110168521 frameshift variant T/-;TT delins 2.1E-05
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1215288938
rs1215288938
1.000 0.040 2 110144533 stop gained A/C;G snv 4.0E-06
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure
Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs190983114
rs190983114
1.000 0.120 2 110204955 missense variant C/A snv 7.5E-03 3.6E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs547352656
rs547352656
1.000 0.040 2 110131733 stop gained G/A snv 8.0E-06 2.1E-05
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure
Nervous System Diseases 0.010 1.000 1 2000 2000
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