DDX3X, DEAD-box helicase 3 X-linked, 1654

N. diseases: 180; N. variants: 39
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519430
rs1057519430
0.925 X 41346946 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 16 1989 2017
dbSNP: rs1131691608
rs1131691608
1.000 X 41346503 splice acceptor variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 16 1989 2017
dbSNP: rs1555952710
rs1555952710
1.000 X 41341617 splice donor variant G/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 16 1989 2017