Source: CLINVAR ×
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.
Fabry Disease
CUI: C0002986
Disease: Fabry Disease
135 1.000 0.160 X 101397959 frameshift variant AGGATTACAGGCCACT/- del 0.700 0