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rs121909377(G;T)

From SNPedia

Miscalled? If not, familial hypertrophic cardiomyopathy 4
Is agenotype
ofrs121909377
GeneMYBPC3
Chromosome11
Position47,333,238
mentionedby
Magnitude2
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar

A 1999 publication reports 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 AC, it confirms carrying the rare mutation reported in 1999.