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.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 6 33438527 frameshift variant A/- del 0.700 1.000 18 2004 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 6 33438527 frameshift variant A/- del 0.700 1.000 18 2004 2017