DDX11, DEAD/H-box helicase 11, 1663

N. diseases: 44; N. variants: 5
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: rs201968272
rs201968272 		0.925 0.160 12 31089147 missense variant G/A snv
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.810 1.000 3 2010 2015
dbSNP: rs1565941025
rs1565941025 		1.000 12 31103616 missense variant T/G snv
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.700 1.000 1 2018 2018
dbSNP: rs148856317
rs148856317 		1.000 12 31097884 splice acceptor variant G/C snv 4.1E-04 2.4E-04
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.700 0
dbSNP: rs730880279
rs730880279 		1.000 12 31102313 splice donor variant T/C snv
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.700 0
dbSNP: rs730880280
rs730880280 		1.000 12 31103727 inframe deletion AAG/- delins
CUI: C3150658
Disease: WARSAW BREAKAGE SYNDROME
WARSAW BREAKAGE SYNDROME 		0.700 0
dbSNP: rs201968272
rs201968272 		0.925 0.160 12 31089147 missense variant G/A snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs201968272
rs201968272 		0.925 0.160 12 31089147 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2013 2013