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

N. diseases: 180; N. variants: 39
Disease: Dysmorphic features ×
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1131691608
rs1131691608 		1.000 X 41346503 splice acceptor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555950665
rs1555950665 		1.000 X 41334255 start lost G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555952710
rs1555952710 		1.000 X 41341617 splice donor variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555953166
rs1555953166 		1.000 X 41343288 splice acceptor variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555953548
rs1555953548 		1.000 X 41344350 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs1555953882
rs1555953882 		1.000 X 41345507 frameshift variant GACA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017
dbSNP: rs797045025
rs797045025 		0.925 X 41344351 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 16 1989 2017