Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908226
rs121908226
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.810 CausalMutation CLINVAR
dbSNP: rs121908227
rs121908227
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
C 0.810 CausalMutation CLINVAR
dbSNP: rs121908215
rs121908215
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs121908216
rs121908216
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.800 GeneticVariation CLINVAR
dbSNP: rs121908216
rs121908216
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs121908228
rs121908228
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.800 GeneticVariation CLINVAR
dbSNP: rs121908233
rs121908233
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs121908236
rs121908236
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs121908243
rs121908243
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs863224852
rs863224852
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.710 GeneticVariation CLINVAR
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908225
rs121908225
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs121909324
rs121909324
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1272886269
rs1272886269
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1315533129
rs1315533129
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555743942
rs1555743942
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555755909
rs1555755909
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555756130
rs1555756130
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555756461
rs1555756461
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
GT 0.700 CausalMutation CLINVAR
dbSNP: rs1555756737
rs1555756737
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555757523
rs1555757523
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555759066
rs1555759066
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555762855
rs1555762855
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555762869
rs1555762869
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs1555762908
rs1555762908
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder)
G 0.700 CausalMutation CLINVAR