rs121912860, COL4A4

N. diseases: 2
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.
Hematuria, Benign Familial
CUI: C0241908
Disease: Hematuria, Benign Familial
22 0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06 0.800 1.000 3 1996 2003
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
143 0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06 0.700 1.000 2 2003 2016