Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205745
rs786205745
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome
A 0.730 CausalMutation CLINVAR
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome
A 0.730 CausalMutation CLINVAR
dbSNP: rs794727587
rs794727587
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome
G 0.710 CausalMutation CLINVAR
dbSNP: rs80315385
rs80315385
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1832916
Disease:
Timothy syndrome
A 0.710 CausalMutation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C3808046
Disease:
Breathing dysregulation
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0240635
Disease:
Byzanthine arch palate
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0578038
Disease:
Thin lips
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0013132
Disease:
Drooling
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0036439
Disease:
Scoliosis, unspecified
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0024636
Disease:
Malocclusion
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0557874
Disease:
Global developmental delay
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C3552821
Disease:
EEG with photoparoxysmal response
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1836835
Disease:
Hyporeflexia of upper limbs
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0036572
Disease:
Seizures
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0239815
Disease:
Hand clenching
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1856477
Disease:
Slowed horizontal saccades
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1328407
Disease:
Hip Dysplasia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0011168
Disease:
Deglutition Disorders
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1853743
Disease:
Muscular hypotonia of the trunk
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C4048268
Disease:
Cortical visual impairment
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1845251
Disease:
Facial hypotonia
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1849683
Disease:
No social interaction
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C3887898
Disease:
Infantile Spasm
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0494475
Disease:
Tonic - clonic seizures
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555968941
rs1555968941
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0085636
Disease:
Photophobia
C 0.700 GeneticVariation CLINVAR