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: rs386833880
rs386833880 		1.000 0.080 19 35848102 missense 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 0.800 1.000 20 1998 2016
dbSNP: rs386833879
rs386833879 		1.000 0.080 19 35848144 missense variant A/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 0.800 1.000 17 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: 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: 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: rs267606917
rs267606917 		1.000 0.080 19 35849283 missense variant A/G snv
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: 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: 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: rs386833861
rs386833861 		1.000 0.080 19 35848788 missense variant G/T snv 1.2E-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 15 1998 2016
dbSNP: rs386833862
rs386833862 		1.000 0.080 19 35848767 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 1.000 15 1998 2016
dbSNP: rs386833864
rs386833864 		1.000 0.080 19 35848711 missense variant T/G snv 4.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 15 1998 2016
dbSNP: rs386833866
rs386833866 		1.000 0.080 19 35848705 missense variant G/A snv
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: rs386833868
rs386833868 		1.000 0.080 19 35848681 missense variant G/C snv 8.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 15 1998 2016
dbSNP: rs386833871
rs386833871 		1.000 0.080 19 35848672 missense variant G/A;T snv 2.0E-05; 4.0E-06
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: rs386833875
rs386833875 		1.000 0.080 19 35848318 missense variant C/A snv
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: rs386833881
rs386833881 		1.000 0.080 19 35848087 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 1.000 15 1998 2016
dbSNP: rs386833885
rs386833885 		1.000 0.080 19 35846052 missense variant C/A snv
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: rs386833886
rs386833886 		1.000 0.080 19 35845754 missense variant G/A snv
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: rs386833888
rs386833888 		1.000 0.080 19 35845719 missense variant G/C snv
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: rs386833890
rs386833890 		1.000 0.080 19 35845702 missense variant G/A;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 0.800 1.000 15 1998 2016
dbSNP: rs386833892
rs386833892 		1.000 0.080 19 35845538 missense variant A/C;G snv
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: rs386833894
rs386833894 		1.000 0.080 19 35845469 missense variant A/T snv
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: rs386833900
rs386833900 		1.000 0.080 19 35844347 missense variant C/A snv 8.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 15 1998 2016
dbSNP: rs386833902
rs386833902 		1.000 0.080 19 35844189 missense variant A/C snv
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