Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C4540496
Disease: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C0038379
Disease: Strabismus
Strabismus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		A 0.700 CausalMutation CLINVAR