Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783446
rs587783446
CHD7
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0426421
Disease: Wide nose
Wide nose 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR