NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
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: rs28940891
rs28940891 		1.000 0.080 1 5874946 missense variant A/G snv
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 2002 2012
dbSNP: rs139022622
rs139022622 		1.000 0.080 1 5866443 missense variant G/A snv 1.8E-03 1.7E-03
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2002 2012
dbSNP: rs1433852047
rs1433852047 		1.000 0.080 1 5887425 missense variant G/A;T snv 3.2E-05
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2002 2012
dbSNP: rs183885357
rs183885357 		1.000 0.080 1 5875036 missense variant C/T snv 2.4E-03 2.0E-03
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2002 2012
dbSNP: rs201527181
rs201527181 		1.000 0.080 1 5887444 missense variant G/A;C snv 1.2E-05; 1.6E-04
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2002 2012
dbSNP: rs373962831
rs373962831 		1.000 0.080 1 5890912 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2002 2012
dbSNP: rs758253306
rs758253306 		1.000 0.080 1 5927685 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2002 2012
dbSNP: rs144624477
rs144624477 		1.000 0.160 1 5865244 missense variant G/A snv 1.4E-03 5.6E-03
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2002 2012
dbSNP: rs145078518
rs145078518 		1.000 0.160 1 5986283 missense variant C/A;T snv 3.8E-04; 3.2E-05
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2002 2012
dbSNP: rs201065230
rs201065230 		1.000 0.160 1 5978278 missense variant A/G snv 9.0E-04 1.1E-03
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 4 2002 2012
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: rs747699128
rs747699128 		0.925 0.160 1 5905456 frameshift variant GAGG/- delins
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2002 2002
dbSNP: rs747699128
rs747699128 		0.925 0.160 1 5905456 frameshift variant GAGG/- delins
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		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: rs1278089386
rs1278089386 		1.000 0.080 1 5873295 frameshift variant A/- del 2.1E-05
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852918
rs137852918 		1.000 0.080 1 5887403 stop gained C/A snv
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852919
rs137852919 		0.925 0.080 1 5887394 stop gained G/A snv
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852920
rs137852920 		1.000 0.080 1 5904716 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852920
rs137852920 		1.000 0.080 1 5904716 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0021359
Disease: Infertility
Infertility 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852922
rs137852922 		0.925 0.160 1 5887436 stop gained G/A snv
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs137852923
rs137852923 		0.882 0.160 1 5904788 stop gained G/A snv 8.0E-06
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137852923
rs137852923 		0.882 0.160 1 5904788 stop gained G/A snv 8.0E-06
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs190940697
rs190940697 		1.000 0.080 1 5947199 missense variant G/A snv 1.6E-03 1.2E-03
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0