rs1555745467, CACNA1A

N. diseases: 23
Source: CURATED ×
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.
Absence Seizures
CUI: C4316903
Disease: Absence Seizures
5 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Amblyopia
CUI: C0002418
Disease: Amblyopia
27 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
58 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
46 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
49 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Dehydration
CUI: C0011175
Disease: Dehydration
2 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
42 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
24 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Hay fever
CUI: C0018621
Disease: Hay fever
26 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Hemiplegia/hemiparesis
CUI: C0375206
Disease: Hemiplegia/hemiparesis
2 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Intention tremor
CUI: C4551520
Disease: Intention tremor
5 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Sleep Apnea, Obstructive
CUI: C0520679
Disease: Sleep Apnea, Obstructive
42 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
85 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Stroke-like episode
CUI: C1857287
Disease: Stroke-like episode
3 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
21 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0