rs869025495, 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 0.851 0.080 1 179564715 missense variant G/A snv 0.800 0
Proteinuria
CUI: C0033687
Disease: Proteinuria
20 0.851 0.080 1 179564715 missense variant G/A snv 0.700 1.000 5 2004 2007
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.851 0.080 1 179564715 missense variant G/A snv 0.700 0
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.851 0.080 1 179564715 missense variant G/A snv 0.010 1.000 1 2014 2014
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
19 0.851 0.080 1 179564715 missense variant G/A snv 0.010 1.000 1 2004 2004
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
25 0.851 0.080 1 179564715 missense variant G/A snv 0.010 1.000 1 2004 2004