rs1555230924, SCN8A

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.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 12 51806351 missense variant C/A snv 0.700 1.000 26 1995 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 12 51806351 missense variant C/A snv 0.700 1.000 26 1995 2017