NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
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: rs962888148
rs962888148 		1.000 0.080 19 35848313 missense variant C/A;T snv 4.0E-06
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs926025297
rs926025297 		1.000 0.080 19 35844183 missense variant C/T snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs786204729
rs786204729 		1.000 0.080 19 35831372 splice acceptor variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2009 2013
dbSNP: rs781584590
rs781584590 		1.000 0.080 19 35849122 stop gained C/T snv 4.1E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2010 2010
dbSNP: rs778552202
rs778552202 		1.000 0.080 19 35849643 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs778217926
rs778217926 		1.000 0.080 19 35849643 frameshift variant G/- delins 4.2E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2010 2013
dbSNP: rs772979927
rs772979927 		1.000 0.080 19 35839521 missense variant C/A;G snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs771953692
rs771953692 		1.000 0.080 19 35842115 splice donor variant CTCACCTGGG/- delins 4.5E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs767887213
rs767887213 		1.000 0.080 19 35830889 stop gained G/A;T snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2001 2001
dbSNP: rs763972372
rs763972372 		0.925 0.080 19 35849060 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2005 2017
dbSNP: rs763972372
rs763972372 		0.925 0.080 19 35849060 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs763162233
rs763162233 		1.000 0.080 19 35841796 missense variant C/T snv 4.0E-05 9.8E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 15 1998 2016
dbSNP: rs762392183
rs762392183 		1.000 0.080 19 35842122 splice donor variant A/C;T snv 8.8E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs762184939
rs762184939 		1.000 0.080 19 35839319 stop gained G/A;C snv 4.8E-05; 8.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2011 2017
dbSNP: rs758432802
rs758432802 		1.000 0.080 19 35831502 splice acceptor variant T/C;G snv 8.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs756436580
rs756436580 		1.000 0.080 19 35830889 stop gained -/T delins 2.0E-05; 5.2E-05 4.2E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2001 2011
dbSNP: rs755763002
rs755763002 		1.000 0.080 19 35844366 frameshift variant CG/- delins 4.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs753476209
rs753476209 		1.000 0.080 19 35849093 missense variant G/A snv 8.2E-06 1.4E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 15 1998 2016
dbSNP: rs751809997
rs751809997 		1.000 0.080 19 35844195 stop gained C/T snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs750714387
rs750714387 		1.000 0.080 19 35830883 frameshift variant -/G delins
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2001 2011
dbSNP: rs749341977
rs749341977 		1.000 0.080 19 35849274 stop gained G/A snv 2.4E-05 2.8E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2009 2010
dbSNP: rs749003854
rs749003854 		1.000 0.080 19 35839287 missense variant C/A snv 2.4E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs748819031
rs748819031 		1.000 0.080 19 35839334 frameshift variant TGTAGAC/- delins 4.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs730880176
rs730880176 		1.000 0.080 19 35831147 splice acceptor variant C/T snv 4.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs730880174
rs730880174 		1.000 0.080 19 35845670 missense variant T/C snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 0