| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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|
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
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CA | 0.700 | GeneticVariation | CLINVAR | Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. | 27832414 | 2017 | ||||||
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|
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A | 0.700 | GeneticVariation | CLINVAR | Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. | 28255985 | 2017 | ||||||
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|
0.700 | GeneticVariation | GWASDB | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. | 22286219 | 2012 | |||||||
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0.700 | GeneticVariation | GWASDB | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. | 22286219 | 2012 | |||||||
|
|
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0.700 | GeneticVariation | GWASDB | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. | 22286219 | 2012 | |||||||
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|
0.700 | GeneticVariation | GWASDB | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. | 22286219 | 2012 | |||||||
|
|
|
0.700 | GeneticVariation | GWASDB | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. | 22286219 | 2012 | |||||||
|
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0.700 | GeneticVariation | GWASDB | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. | 22286219 | 2012 | |||||||
|
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|
0.700 | GeneticVariation | GWASDB | Genome-wide association study identifies multiple loci influencing human serum metabolite levels. | 22286219 | 2012 | |||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | Richner-Hanhart syndrome detected by expanded newborn screening. | 18577048 | 2008 | ||||||
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|
A | 0.700 | CausalMutation | CLINVAR | TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. | 16917729 | 2006 | ||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. | 9544843 | 1998 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. | 9544843 | 1998 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. | 9544843 | 1998 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. | 1357662 | 1992 | ||||||
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|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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|
T | 0.700 | GeneticVariation | CLINVAR |