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.
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Cakut
CUI: C1968949
Disease: Cakut
8 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 1 2017 2017
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
CUI: C4225172
Disease: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
4 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Dystonic posture
CUI: C0426961
Disease: Dystonic posture
1 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Laryngotracheomalacia
CUI: C0585984
Disease: Laryngotracheomalacia
6 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
Speech Delay
CUI: C0241210
Disease: Speech Delay
11 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017