ClinVar Miner

Submissions for variant NM_001166694.1(CHRNA3):c.645C>T (p.Tyr215=) (rs1051730)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019055 SCV000039342 risk factor Lung cancer susceptibility 2 2008-05-01 no assertion criteria provided literature only
OMIM RCV000033204 SCV000057050 risk factor Smoking as a quantitative trait locus 3 2008-05-01 no assertion criteria provided literature only
PharmGKB RCV000211282 SCV000268146 drug response nicotine response - Toxicity/ADR 2015-04-01 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

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