rs1057519436, DHX30

N. diseases: 7
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.
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
CUI: C4540496
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
7 0.882 0.200 3 47846550 missense variant G/A snv 0.800 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0