Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. | 28677221 | 2017 |