| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.820 | CausalMutation | CLINVAR | A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy. | 9196903 | 1997 |
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|
0.820 | GeneticVariation | UNIPROT | A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. | 7850982 | 1995 |
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|
0.820 | GeneticVariation | UNIPROT | "A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient ""SKO"" with familial amyloidotic polyneuropathy." | 8019560 | 1994 |
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|
0.820 | GeneticVariation | UNIPROT | A new transthyretin mutation associated with amyloid cardiomyopathy. | 1570831 | 1992 |
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|
0.820 | GeneticVariation | UNIPROT | Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. | 1351039 | 1992 |
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|
0.820 | GeneticVariation | UNIPROT | A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. | 2161654 | 1990 |
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|
A | 0.820 | CausalMutation | CLINVAR | Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification. | 2613237 | 1989 |
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|
0.820 | GeneticVariation | UNIPROT | Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. | 2891727 | 1988 |
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|
0.820 | GeneticVariation | UNIPROT | Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. | 3818577 | 1986 |
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|
G | 0.820 | CausalMutation | CLINVAR |