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: rs530318579
rs530318579
NPHS2
0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		0.800 1.000 24 2000 2015
dbSNP: rs530318579
rs530318579
NPHS2
0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.700 1.000 13 2004 2012
dbSNP: rs530318579
rs530318579
NPHS2
0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Not Otherwise Specified 		0.010 1.000 1 2009 2009
dbSNP: rs530318579
rs530318579
NPHS2
0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		0.010 1.000 1 2004 2004
dbSNP: rs530318579
rs530318579
NPHS2
0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 1.000 1 2004 2004
dbSNP: rs530318579
rs530318579
NPHS2
0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 1.000 1 2009 2009