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 ciliary motility
CUI: C4022983
Disease: Abnormal ciliary motility
5 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Asthma
CUI: C0004096
Disease: Asthma
1536 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
13 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Episodic vomiting
CUI: C1838993
Disease: Episodic vomiting
10 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Gastritis
CUI: C0017152
Disease: Gastritis
21 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Gastroparesis
CUI: C0152020
Disease: Gastroparesis
7 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Recurrent upper and lower respiratory tract infections
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
2 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Roifman syndrome
CUI: C1846059
Disease: Roifman syndrome
7 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
Upper airway obstruction
CUI: C0740852
Disease: Upper airway obstruction
3 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0