rs748812981, NPHS2

N. diseases: 4
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 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05 0.800 1.000 9 2004 2015
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05 0.700 1.000 9 2004 2015
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
19 0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05 0.010 1.000 1 2004 2004
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
25 0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05 0.010 1.000 1 2004 2004