NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Disease: Nephronophthisis ×
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: rs137852919
rs137852919 		0.925 0.080 1 5887394 stop gained G/A snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2002 2005
dbSNP: rs137852922
rs137852922 		0.925 0.160 1 5887436 stop gained G/A snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2002 2002
dbSNP: rs137852923
rs137852923 		0.882 0.160 1 5904788 stop gained G/A snv 8.0E-06
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1210874691
rs1210874691 		1.000 0.080 1 5927733 stop gained C/A snv 2.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs398124289
rs398124289 		1.000 0.080 1 5874973 frameshift variant -/GAGCG delins 1.2E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0