Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708 1988
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708 1988
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708 1988
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708 1988
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Familial paroxysmal ataxia: report of a family. 1564484 1992
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Familial paroxysmal ataxia: report of a family. 1564484 1992
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Familial paroxysmal ataxia: report of a family. 1564484 1992
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Familial paroxysmal ataxia: report of a family. 1564484 1992
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9302278 1997
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. 9005860 1997
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170 1997
dbSNP: rs1057520918
rs1057520918
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. 9403487 1997
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9302278 1997
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. 9403487 1997
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170 1997
dbSNP: rs1318353774
rs1318353774
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. 9005860 1997
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. 9403487 1997
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. 9005860 1997
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9302278 1997
dbSNP: rs1555756091
rs1555756091
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		TA 0.700 CausalMutation CLINVAR Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170 1997
dbSNP: rs886037945
rs886037945
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9302278 1997