NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: NEPHRONOPHTHISIS 3 ×
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: 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: 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: 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: 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: 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: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 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: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs267606916
rs267606916 		0.925 0.080 3 132696798 stop gained G/A snv 4.8E-05 1.0E-04
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs751527253
rs751527253 		0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs75316802
rs75316802 		1.000 0.080 3 132681962 missense variant C/G;T snv 1.6E-03
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0