rs1272948499, NPHS2

N. diseases: 3
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 179575709 frameshift variant C/- delins 1.4E-05 0.700 1.000 1 2017 2017
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.925 0.080 1 179575709 frameshift variant C/- delins 1.4E-05 0.700 1.000 1 2017 2017
Proteinuria
CUI: C0033687
Disease: Proteinuria
20 0.925 0.080 1 179575709 frameshift variant C/- delins 1.4E-05 0.700 0