ClinVar Miner

Submissions for variant NC_000006.12:g.31575254G>A

gnomAD frequency: 0.14163  dbSNP: rs1800629
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211242 SCV000268228 drug response etanercept response - Efficacy 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 RCV001807637 SCV000033436 risk factor not specified 2006-03-01 no assertion criteria provided literature only
OMIM RCV001807635 SCV000033437 risk factor Inherited susceptibility to asthma 2006-03-01 no assertion criteria provided literature only
OMIM RCV001807638 SCV000033438 risk factor not specified 2006-03-01 no assertion criteria provided literature only
OMIM RCV001807639 SCV000033439 risk factor not specified 2006-03-01 no assertion criteria provided literature only
OMIM RCV001807640 SCV000033440 risk factor Psoriatic arthritis, susceptibility to 2006-03-01 no assertion criteria provided literature only
OMIM RCV001807634 SCV000033441 risk factor Systemic lupus erythematosus, susceptibility to 2006-03-01 no assertion criteria provided literature only
OMIM RCV001807636 SCV000033442 risk factor Malaria, cerebral, susceptibility to 2006-03-01 no assertion criteria provided literature only
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001354056 SCV001548220 uncertain significance Susceptibility to severe coronavirus disease (COVID-19) 2021-02-09 no assertion criteria provided research
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001836755 SCV001792246 uncertain significance Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR4 2021-08-07 no assertion criteria provided research Differences in plasma levels of TNFR2 according to genotypes
Laboratorio de Investigación del Departamento de Salud, Universidad Iberoamericana A.C. RCV001824024 SCV002073726 affects Endometriosis 2021-10-20 no assertion criteria provided case-control Mexican mestizo women with severe stage of endometriosis have higher frequencies of TNF*2-, IL1B*2- and IL1RN*2-alleles, which may explain a possible correlation with disease severity rather than predisposition or risk.

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