rs1057519430, DDX3X

N. diseases: 5
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.
MENTAL RETARDATION, X-LINKED 102
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
31 0.925 X 41346946 missense variant C/T snv 0.800 0
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 X 41346946 missense variant C/T snv 0.700 1.000 16 1989 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.925 X 41346946 missense variant C/T snv 0.700 1.000 16 1989 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 X 41346946 missense variant C/T snv 0.700 1.000 16 1989 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 X 41346946 missense variant C/T snv 0.700 1.000 16 1989 2017