Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0426421
Disease: Wide nose
Wide nose
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0521525
Disease: Short neck
Short neck
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
Abnormality of cardiovascular system morphology
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
0.700 0
dbSNP: rs587783446
rs587783446
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
0.700 0