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: rs1009762900
rs1009762900 		1.000 0.080 19 35831763 splice acceptor variant C/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 0
dbSNP: rs1054950770
rs1054950770 		1.000 0.080 19 35851260 splice donor variant A/G 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 0
dbSNP: rs1057516637
rs1057516637 		1.000 0.080 19 35835755 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 0
dbSNP: rs1057516776
rs1057516776 		1.000 0.080 19 35848147 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: rs1057516918
rs1057516918 		1.000 0.080 19 35848112 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 0
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: rs1057517021
rs1057517021 		1.000 0.080 19 35845681 frameshift variant T/- 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 0
dbSNP: rs1057517022
rs1057517022 		1.000 0.080 19 35844419 frameshift variant G/- 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 0
dbSNP: rs1057517275
rs1057517275 		1.000 0.080 19 35850377 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 0
dbSNP: rs1057517413
rs1057517413 		1.000 0.080 19 35848795 splice acceptor variant C/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: rs1131692245
rs1131692245 		0.925 0.160 19 35844109 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 0.800 0
dbSNP: rs113825926
rs113825926 		1.000 0.080 19 35849107 missense variant G/A snv 7.7E-03 8.5E-03
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs114203578
rs114203578 		1.000 0.080 19 35842480 missense variant C/G;T snv 6.8E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 0
dbSNP: rs114849139
rs114849139 		1.000 0.080 19 35839554 missense variant C/G;T snv 1.1E-03; 8.0E-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: rs114896482
rs114896482 		0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: rs137853042
rs137853042 		1.000 0.080 19 35831358 stop gained G/A snv 1.6E-04 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 1998 2010
dbSNP: rs138656762
rs138656762 		1.000 0.080 19 35839418 missense variant C/A snv 4.4E-05 4.2E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 21 1998 2016
dbSNP: rs139598219
rs139598219 		1.000 0.080 19 35850407 stop gained C/A;T snv 7.2E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 16 1998 2016
dbSNP: rs139954720
rs139954720 		1.000 0.080 19 35852305 intron variant TCTCTCTCTCTC/-;TCTC;TCTCTC;TCTCTCTC;TCTCTCTCTC;TCTCTCTCTCTCTC;TCTCTCTCTCTCTCTC;TCTCTCTCTCTCTCTCTC delins
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: rs142008044
rs142008044 		1.000 0.080 19 35848334 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 5.2E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 16 1998 2016
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: rs143092783
rs143092783 		1.000 0.080 19 35831116 missense variant G/A;T snv 1.0E-04; 9.8E-04
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 15 1998 2016
dbSNP: rs143649022
rs143649022 		1.000 0.080 19 35841802 missense variant A/G snv 4.0E-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 15 1998 2016