Source: CLINVAR ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Earlier age of onset of BRCA mutation-related cancers in subsequent generations. | 21913181 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. | 18703817 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. | 17591842 | 2007 |