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: 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: 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: rs386833941
rs386833941 		1.000 0.080 19 35826505 stop lost GGGCTCTTACACCAGA/- 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: 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: rs386833896
rs386833896 		1.000 0.080 19 35845393 splice region variant G/A snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs386833927
rs386833927 		1.000 0.080 19 35841710 splice region variant C/T snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: 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: rs386833891
rs386833891 		1.000 0.080 19 35845513 splice acceptor variant GGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGT/- 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 2 2010 2010
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: rs386833955
rs386833955 		1.000 0.080 19 35849655 splice acceptor variant T/C;G snv 8.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2008 2015
dbSNP: rs786204729
rs786204729 		1.000 0.080 19 35831372 splice acceptor 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 0.700 1.000 2 2009 2013
dbSNP: rs1555762381
rs1555762381 		1.000 0.080 19 35844460 splice acceptor variant C/T snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2010 2010
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: 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: rs1555763090
rs1555763090 		1.000 0.080 19 35848167 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: 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: rs386833924
rs386833924 		1.000 0.080 19 35841860 splice acceptor variant CGTGTACCTAG/- 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: rs386833928
rs386833928 		1.000 0.080 19 35839601 splice acceptor variant CGGCCTATGGG/- 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: rs386833938
rs386833938 		1.000 0.080 19 35831148 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: rs386833940
rs386833940 		1.000 0.080 19 35826647 splice acceptor variant T/C 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 0
dbSNP: rs730880176
rs730880176 		1.000 0.080 19 35831147 splice acceptor variant C/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 0
dbSNP: rs758432802
rs758432802 		1.000 0.080 19 35831502 splice acceptor variant T/C;G snv 8.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 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: 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