ClinVar Miner

Submissions for variant NM_000745.3(CHRNA5):c.1192G>A (p.Asp398Asn) (rs16969968)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019049 SCV000039336 risk factor Lung cancer susceptibility 2 2010-07-27 no assertion criteria provided literature only
OMIM RCV000033213 SCV000057060 risk factor Smoking as a quantitative trait locus 3 2010-07-27 no assertion criteria provided literature only
PharmGKB RCV000786584 SCV000925406 drug response nicotine response - Toxicity/ADR 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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