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 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.800 1.000 9 2002 2014
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.700 1.000 8 2002 2014
NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
CUI: C4016901
Disease: NEPHROTIC SYNDROME, TYPE 2, SUSCEPTIBILITY TO
2 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.700 0
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
9 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.010 1.000 1 2013 2013
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
19 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.010 1.000 1 2013 2013
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
25 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.010 1.000 1 2013 2013