MAGEL2, MAGE family member L2, 54551
N. diseases: 184; N. variants: 15
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Molecular diagnostic experience of whole-exome sequencing in adult patients. | 26633545 | 2016 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. | 24076603 | 2013 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. | 24076603 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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GGT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 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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TG | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |