rs1554768245, SYNE1

N. diseases: 16
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.
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
11 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Atrophy/Degeneration affecting the central nervous system
CUI: C4024899
Disease: Atrophy/Degeneration affecting the central nervous system
1 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Diffuse cerebellar atrophy
CUI: C1854699
Disease: Diffuse cerebellar atrophy
4 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Gaze-evoked horizontal nystagmus
CUI: C1853394
Disease: Gaze-evoked horizontal nystagmus
1 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
11 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Limb dysmetria
CUI: C1854489
Disease: Limb dysmetria
6 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Morphological abnormality of the central nervous system
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
7 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
Progressive gait ataxia
CUI: C1843885
Disease: Progressive gait ataxia
3 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
32 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0