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: 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: 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: 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: 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: 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: 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: 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: 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: rs200253809
rs200253809 		1.000 0.080 19 35844249 splice region variant G/A;C;T snv 4.3E-04; 8.0E-06; 6.0E-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: 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: rs386833960
rs386833960 		1.000 0.080 19 35849310 missense variant G/A;C snv 2.3E-04; 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: 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: rs386833911
rs386833911 		1.000 0.080 19 35842481 missense variant G/A;T snv 1.2E-05; 1.1E-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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs386833865
rs386833865 		1.000 0.080 19 35848708 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 16 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: rs386833895
rs386833895 		0.925 0.080 19 35845430 missense variant C/A snv 3.6E-05 7.0E-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 19 1998 2016