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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 X 41334255 start lost G/C snv 0.700 1.000 16 1989 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 X 41334255 start lost G/C snv 0.700 1.000 16 1989 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 X 41334255 start lost G/C snv 0.700 1.000 16 1989 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 X 41334255 start lost G/C snv 0.700 1.000 16 1989 2017