Source: CLINVAR ×
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
240 1 19232655 missense variant G/T snv 0.700 1.000 2 2013 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1 19232655 missense variant G/T snv 0.700 1.000 2 2013 2016