NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Finnish congenital nephrotic syndrome ×
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: rs34124941
rs34124941 		1.000 0.080 19 35839284 frameshift variant -/C 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 1 2017 2017
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: rs386833926
rs386833926 		1.000 0.080 19 35841747 stop gained G/A;T snv 1.6E-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 1 2011 2011
dbSNP: rs1555763372
rs1555763372 		1.000 0.080 19 35848787 frameshift variant A/- del
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 2015
dbSNP: rs386833891
rs386833891 		1.000 0.080 19 35845513 splice acceptor variant GGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGT/- 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 2 2010 2010
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: rs1555762381
rs1555762381 		1.000 0.080 19 35844460 splice acceptor 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 1.000 1 2010 2010
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: rs386833959
rs386833959 		1.000 0.080 19 35849340 stop gained C/A;T snv 4.0E-06; 4.0E-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 2009 2015
dbSNP: rs1244884053
rs1244884053 		1.000 0.080 19 35842244 frameshift variant TTAG/- delins 7.0E-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 2016
dbSNP: rs386833918
rs386833918 		1.000 0.080 19 35842272 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 2 2009 2014
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: 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: rs386833882
rs386833882 		1.000 0.080 19 35851592 frameshift variant C/- delins 8.1E-06 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 3 2008 2012
dbSNP: rs1430464721
rs1430464721 		1.000 0.080 19 35826621 frameshift variant C/- del 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 2008 2011
dbSNP: rs1555758163
rs1555758163 		1.000 0.080 19 35826627 frameshift variant A/- del
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 2008 2011
dbSNP: rs386833942
rs386833942 		1.000 0.080 19 35851090 splice acceptor variant C/G;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 1.000 2 2008 2015
dbSNP: rs386833955
rs386833955 		1.000 0.080 19 35849655 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 1.000 2 2008 2015
dbSNP: rs386833920
rs386833920 		1.000 0.080 19 35842191 stop gained G/A snv 8.1E-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 2008 2008
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: rs386833932
rs386833932 		1.000 0.080 19 35851346 missense variant C/T snv 7.0E-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 4 2005 2017
dbSNP: rs386833903
rs386833903 		1.000 0.080 19 35844152 frameshift variant AGTGCAGC/- 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 2 2005 2009
dbSNP: rs140018064
rs140018064 		1.000 0.080 19 35842406 stop gained G/A;T snv 2.0E-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 2004 2014
dbSNP: rs150855173
rs150855173 		1.000 0.080 19 35831092 stop gained G/A snv 8.0E-06 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 2001 2017
dbSNP: rs386833943
rs386833943 		1.000 0.080 19 35851019 stop gained G/C 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 6 2001 2015