rs1131692245, NPHS1

N. diseases: 7
Source: CURATED ×
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.
Finnish congenital nephrotic syndrome
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
178 0.925 0.160 19 35844109 missense variant C/T snv 0.800 0
Ascites
CUI: C0003962
Disease: Ascites
2 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
Diarrhea
CUI: C0011991
Disease: Diarrhea
14 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
Edema
CUI: C0013604
Disease: Edema
1 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
Pneumonia
CUI: C0032285
Disease: Pneumonia
11 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
Proteinuria
CUI: C0033687
Disease: Proteinuria
20 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0