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: 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
dbSNP: rs145125791
rs145125791 		1.000 0.080 19 35850409 missense variant T/A snv 6.0E-03 6.0E-03
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: rs1468337078
rs1468337078 		1.000 0.080 19 35845727 missense variant A/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 15 1998 2016
dbSNP: rs267606918
rs267606918 		1.000 0.080 19 35842421 missense variant C/T snv 1.6E-05 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 15 1998 2016
dbSNP: rs34982899
rs34982899 		1.000 0.080 19 35849285 missense variant G/A;C;T snv 1.6E-05; 1.5E-02; 1.6E-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 15 1998 2016
dbSNP: rs367976914
rs367976914 		1.000 0.080 19 35845476 missense variant C/T snv 6.2E-04 1.9E-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 15 1998 2016
dbSNP: rs367986918
rs367986918 		1.000 0.080 19 35839299 missense variant C/G;T snv 4.0E-06; 2.6E-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 15 1998 2016
dbSNP: rs373835033
rs373835033 		1.000 0.080 19 35849552 missense variant A/G;T snv 1.6E-05; 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 15 1998 2016
dbSNP: rs386833933
rs386833933 		1.000 0.080 19 35851340 missense variant C/T snv 1.6E-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 15 1998 2016
dbSNP: rs387906357
rs387906357 		1.000 0.080 19 35842429 missense variant T/A 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 15 1998 2016
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: 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: rs267606919
rs267606919 		1.000 0.080 19 35831056 stop gained G/A snv 9.9E-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 2012
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: 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: 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
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: 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: rs150038620
rs150038620 		1.000 0.080 19 35842551 splice acceptor variant C/T snv 9.2E-05 9.1E-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 4 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: 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: 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