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.
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
43 1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06 0.700 0
Frank hematuria
CUI: C0473237
Disease: Frank hematuria
1 1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06 0.700 0
Microalbuminuria
CUI: C0730345
Disease: Microalbuminuria
32 1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06 0.700 0
Microscopic hematuria
CUI: C0239937
Disease: Microscopic hematuria
4 1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06 0.700 0
Proteinuria
CUI: C0033687
Disease: Proteinuria
20 1.000 2 227295295 inframe insertion -/AGG delins 7.0E-06 0.700 0