rs1553583712, SCN2A

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 2 165354339 frameshift variant GA/- del 0.700 1.000 34 1991 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 2 165354339 frameshift variant GA/- del 0.700 1.000 34 1991 2017