Source: CURATED

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: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0576227
Disease: Narrow foot
Narrow foot
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0578038
Disease: Thin lips
Thin lips
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C3693299
Disease: Broad uvula
Broad uvula
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0002418
Disease: Amblyopia
Amblyopia
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C1837731
Disease: Overfolded helix
Overfolded helix
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0016202
Disease: Flatfoot
Flatfoot
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
Complex partial seizure with impairment of consciousness
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0238210
Disease: Malrotation of kidney
Malrotation of kidney
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0006157
Disease: Breech Presentation
Breech Presentation
0.700 0