rs1554767317, DNM1;CIZ1

N. diseases: 2
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 9 128203604 missense variant G/A snv 0.700 1.000 38 1983 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 9 128203604 missense variant G/A snv 0.700 1.000 38 1983 2017