| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. | 22912398 | 2012 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASDB | Genome-wide association identifies diverse causes of common variable immunodeficiency. | 21497890 | 2011 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Using X-exome sequencing we have identified a missense mutation (G1107D) in the CaM-binding domain of isoform 3 of the PMCAs in a family with X-linked congenital cerebellar ataxia. | 22912398 | 2012 |