Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C4085582
Disease: MENTAL RETARDATION, X-LINKED 102
MENTAL RETARDATION, X-LINKED 102 		0.800 0
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1989 2017
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 16 1989 2017
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 16 1989 2017