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rs121909377(G;T)

From SNPedia

Miscall likely if from 23andMe data; If not, familial hypertrophic cardiomyopathy 4
Is agenotype
ofrs121909377
GeneMYBPC3
Chromosome11
Position47,333,238
mentionedby
Magnitude4
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Miscall likely if from 23andMe data; If not, familial hypertrophic cardiomyopathy 4

1999 and 2015 publications report that the minor allele is a dominant mutation leading to familial hypertrophic cardiomyopathy 4. However, SNPedia has observed that 23andMe data may miscall this mutation, and their customers should check their i5005171 genotype, which independently checks this mutation. If i5005171 is CC, it's the common/normal genotype, but if i5005171 is AC, it confirms carrying the rare HCM mutation originally reported in 1999.