rs74315342, NPHS2

N. diseases: 10
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 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.800 1.000 24 2000 2018
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.700 1.000 12 2000 2018
Nephrotic range proteinuria
CUI: C0445118
Disease: Nephrotic range proteinuria
7 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.700 0
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
194 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2017 2017
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2007 2007
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
9 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2013 2013
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
425 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2017 2017
Nephrotic syndrome in children
CUI: C3825926
Disease: Nephrotic syndrome in children
1 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2008 2008
Steroid resistant nephrotic syndrome of childhood
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
19 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2008 2008
Steroid-resistant nephrotic syndrome
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
25 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.010 1.000 1 2008 2008