rs104886344, COL4A5

N. diseases: 1
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
CUI: C1567741
Disease: Alport Syndrome
314 1.000 0.160 X 108602962 splice acceptor variant A/G snv 0.700 0