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 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
143 0.882 0.120 2 227254659 frameshift variant -/T delins 0.700 1.000 1 1997 1997
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
43 0.882 0.120 2 227254659 frameshift variant -/T delins 0.700 1.000 1 1997 1997
Hematuria, Benign Familial
CUI: C0241908
Disease: Hematuria, Benign Familial
22 0.882 0.120 2 227254659 frameshift variant -/T delins 0.700 1.000 1 1997 1997