rs1553621496, UNC80

N. diseases: 53
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.
Abdomen distended
CUI: C0000731
Disease: Abdomen distended
6 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Abnormal neuron morphology
CUI: C4022739
Disease: Abnormal neuron morphology
3 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Abnormal oral frenulum morphology
CUI: C4025881
Disease: Abnormal oral frenulum morphology
1 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Abnormal posture
CUI: C0231471
Disease: Abnormal posture
7 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Aplastic/hypoplastic toenail
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
1 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Cellulitis
CUI: C0007642
Disease: Cellulitis
1 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Central Apnea
CUI: C3887548
Disease: Central Apnea
2 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Clinodactyly of the 5th toe
CUI: C4025741
Disease: Clinodactyly of the 5th toe
4 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
EEG with occipital slowing
CUI: C4023465
Disease: EEG with occipital slowing
1 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Elevated C-reactive protein level
CUI: C4023452
Disease: Elevated C-reactive protein level
2 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Exaggerated startle response
CUI: C1740801
Disease: Exaggerated startle response
4 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Failure to thrive in infancy
CUI: C1867873
Disease: Failure to thrive in infancy
12 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Flat occiput
CUI: C1837402
Disease: Flat occiput
6 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0