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: 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: rs1555764281
rs1555764281 		1.000 0.080 19 35851793 frameshift variant C/-;CCC 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: rs386833954
rs386833954 		1.000 0.080 19 35851779 splice donor 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: 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: 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: 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: rs386833897
rs386833897 		1.000 0.080 19 35851540 missense variant C/G snv 8.1E-06 7.0E-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: rs386833914
rs386833914 		1.000 0.080 19 35851482 stop gained -/T 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: rs386833929
rs386833929 		1.000 0.080 19 35851373 missense variant G/C snv 7.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 15 1998 2016
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: 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: rs386833934
rs386833934 		1.000 0.080 19 35851339 missense variant G/A;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: 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: rs1555763974
rs1555763974 		1.000 0.080 19 35851091 splice acceptor variant T/C 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: rs386833942
rs386833942 		1.000 0.080 19 35851090 splice acceptor variant C/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 0.700 1.000 2 2008 2015
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: rs386833944
rs386833944 		1.000 0.080 19 35851008 missense 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: rs386833945
rs386833945 		0.882 0.080 19 35850987 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: rs386833946
rs386833946 		1.000 0.080 19 35850975 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: rs386833948
rs386833948 		1.000 0.080 19 35850971 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: 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: rs386833949
rs386833949 		1.000 0.080 19 35850969 missense variant A/T 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: rs386833950
rs386833950 		1.000 0.080 19 35850956 splice region variant C/G;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: rs386833951
rs386833951 		1.000 0.080 19 35850440 stop gained G/A snv 1.2E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2001 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