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.
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Asthma
CUI: C0004096
Disease: Asthma
1536 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Astigmatism
CUI: C0004106
Disease: Astigmatism
45 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Broad uvula
CUI: C3693299
Disease: Broad uvula
2 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Complex partial seizure with impairment of consciousness
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
10 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
7 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
224 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Hallux Valgus
CUI: C0018536
Disease: Hallux Valgus
6 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Left ventricular noncompaction
CUI: C1960469
Disease: Left ventricular noncompaction
26 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Malrotation of kidney
CUI: C0238210
Disease: Malrotation of kidney
1 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
22 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0