rs1421405659

A SNP in the MYBPC1 gene on chromosome 12. Its most notable genotype is G;T: Early-onset myopathy

Gene
MYBPC1
Location
Chr 12101,642,529 (GRCh38)
Highest magnitude
5.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

On SNPedia: (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

aka L263R or p.Leu263Arg Based on an analysis by the UDN, the minor allele is considered pathogenic (in a dominant manner) for a form of early-onset myopathy with tremor (and gradual improvement); the phenotype generally appears not to include arthrogryposis.

G;T

see discussion on main rs-page

Source and license

Adapted from rs1421405659 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.