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 0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05 0.700 1.000 8 2000 2011
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05 0.700 1.000 8 2000 2011
Nephrotic range proteinuria
CUI: C0445118
Disease: Nephrotic range proteinuria
7 0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05 0.700 0