rs530318579, NPHS2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Idiopathic Nephrotic Syndrome
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
72 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.800 1.000 24 2000 2015
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.700 1.000 13 2004 2012
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
CUI: C4049702
Disease: Focal Segmental Glomerulosclerosis, Not Otherwise Specified
6 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2009 2009
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
19 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2004 2004
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
25 0.807 0.080 1 179559710 missense variant C/T snv 1.4E-05 0.010 1.000 1 2004 2004