NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Disease: SENIOR-LOKEN SYNDROME 4 ×
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: 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: 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: 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: 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: rs199891059
rs199891059 		1.000 0.160 1 5905367 missense variant G/A snv 2.1E-04 3.5E-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 0