rs121907960, HEXA

N. diseases: 3
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 1.000 0.120 15 72349148 inframe deletion GAA/- delins 0.700 1.000 11 1986 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.120 15 72349148 inframe deletion GAA/- delins 0.700 1.000 11 1986 2011
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
103 1.000 0.120 15 72349148 inframe deletion GAA/- delins 0.700 1.000 4 1991 2005