rs587783446, CHD7

N. diseases: 19
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.
Abnormality of cardiovascular system morphology
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
13 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
205 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
12 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
7 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Esophageal Atresia
CUI: C0014850
Disease: Esophageal Atresia
6 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0
Wide nose
CUI: C0426421
Disease: Wide nose
1 0.763 0.280 8 60850546 stop gained C/T snv 0.700 0