Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 24 2000 2018
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.700 1.000 12 2000 2018
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C0445118
Disease: Nephrotic range proteinuria
Nephrotic range proteinuria 		0.700 0
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.010 1.000 1 2017 2017
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.010 1.000 1 2017 2017
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 1.000 1 2007 2007
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C3825926
Disease: Nephrotic syndrome in children
Nephrotic syndrome in children 		0.010 1.000 1 2008 2008
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		0.010 1.000 1 2013 2013
dbSNP: rs74315342
rs74315342
NPHS2
0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 1.000 1 2008 2008