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.
Usher Syndrome, Type III
CUI: C1568248
Disease: Usher Syndrome, Type III
24 1.000 0.200 3 150941710 frameshift variant GACAT/- delins 8.0E-06 0.700 1.000 1 2011 2011