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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 1 154569536 missense variant C/T snv 4.0E-06; 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 1 154569536 missense variant C/T snv 4.0E-06; 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017