ClinVar Miner

Submissions for variant NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn)

gnomAD frequency: 0.24062  dbSNP: rs16969968
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV001787807 SCV000925406 drug response nicotine response - Toxicity 2021-03-24 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Variants in Level 2B clinical annotations are not in PharmGKB’s Tier 1 VIPs. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2B clinical annotations must be supported by at least two independent publications.
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
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV003234914 SCV002819136 uncertain significance Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein no assertion criteria provided research

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