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 227280587 stop gained C/T snv 7.0E-06 0.700 1.000 2 2012 2015
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
43 0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06 0.700 0
Hematuria, Benign Familial
CUI: C0241908
Disease: Hematuria, Benign Familial
22 0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06 0.700 0