| 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 | ||||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. | 26809805 | 2016 | ||||||
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|
A | 0.700 | CausalMutation | CLINVAR | Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. | 24033287 | 2014 | ||||||
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|
|
G | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in X-linked Alport syndrome. | 20378821 | 2010 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome. | 19693995 | 2009 | ||||||
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|
|
GTTCT | 0.700 | CausalMutation | CLINVAR | MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. | 18616531 | 2008 | ||||||
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|
|
A | 0.700 | CausalMutation | CLINVAR | A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome. | 16941480 | 2006 | ||||||
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|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
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|
C | 0.700 | CausalMutation | CLINVAR |