rs114896482, NPHS1

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.
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03 0.700 1.000 1 2004 2004
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
178 0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03 0.700 0
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03 0.010 1.000 1 2019 2019