rs1555968941, CACNA1C

N. diseases: 31
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.
EEG with photoparoxysmal response
CUI: C3552821
Disease: EEG with photoparoxysmal response
1 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Hyporeflexia of lower limbs
CUI: C1834696
Disease: Hyporeflexia of lower limbs
1 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Hyporeflexia of upper limbs
CUI: C1836835
Disease: Hyporeflexia of upper limbs
1 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Lack of spontaneous play
CUI: C1837650
Disease: Lack of spontaneous play
1 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Slowed horizontal saccades
CUI: C1856477
Disease: Slowed horizontal saccades
1 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Abnormality of mitochondrial metabolism
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
3 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
No social interaction
CUI: C1849683
Disease: No social interaction
3 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Abnormality of dental enamel
CUI: C4021800
Disease: Abnormality of dental enamel
4 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Facial hypotonia
CUI: C1845251
Disease: Facial hypotonia
6 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Photophobia
CUI: C0085636
Disease: Photophobia
7 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
8 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Thin lips
CUI: C0578038
Disease: Thin lips
8 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
9 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Hand clenching
CUI: C0239815
Disease: Hand clenching
9 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
9 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Malocclusion
CUI: C0024636
Disease: Malocclusion
10 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0