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: rs386833873
rs386833873 		1.000 0.080 19 35851609 frameshift variant AG/- del 1.1E-03 8.7E-04
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1998 2013
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: 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: rs386833952
rs386833952 		1.000 0.080 19 35850438 frameshift variant C/- del 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 1 1999 1999
dbSNP: rs1057516942
rs1057516942 		1.000 0.080 19 35851557 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 0
dbSNP: rs1555761997
rs1555761997 		1.000 0.080 19 35842246 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 0
dbSNP: rs386833883
rs386833883 		1.000 0.080 19 35846154 frameshift variant G/- del 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 0
dbSNP: rs386833906
rs386833906 		1.000 0.080 19 35844142 frameshift variant CA/- 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 0
dbSNP: rs386833924
rs386833924 		1.000 0.080 19 35841860 splice acceptor variant CGTGTACCTAG/- del
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs386833957
rs386833957 		1.000 0.080 19 35849600 frameshift variant CT/- del
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs386833947
rs386833947 		1.000 0.080 19 35850970 inframe deletion GTG/- delins 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 7 1999 2013
dbSNP: rs1555763603
rs1555763603 		1.000 0.080 19 35849641 protein altering variant CCGGGGTG/AA 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 4 1999 2010
dbSNP: rs386833935
rs386833935 		1.000 0.080 19 35831679 frameshift variant C/-;CC delins 3.5E-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 4 1999 2010
dbSNP: rs386833878
rs386833878 		1.000 0.080 19 35848259 frameshift variant -/GT delins 4.0E-06; 3.6E-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 3 1998 2010
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: 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: 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: 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: 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: 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: 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: 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: 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: rs386833876
rs386833876 		1.000 0.080 19 35848293 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 1 1999 1999