rs121913584
A SNP in the MPZ gene on chromosome 1. Its most notable genotype is G;T: Charcot-Marie-Tooth Disease, type 1
- Gene
- MPZ
- Location
- Chr 1161,306,886 (GRCh38)
- Highest magnitude
- 6.1Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;TMost notableBadCharcot-Marie-Tooth Disease, type 1
- G;GGoodcommon in clinvar
- C;GBadCharcot-Marie-Tooth Disease, type 1
SNPedia records rs121913584 on the minus strand: (A;C), (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other MPZ SNPs
- rs572010627A;TCharcot-Marie-Tooth (CMT) disease type 1B (predicted)Very important
- rs121913583C;TCharcot-Marie-Tooth Disease, type 1Very important
- rs121913587A;GCharcot-Marie-Tooth Disease, type 1Very important
- rs121913588C;TCharcot-Marie-Tooth Disease, type 1Very important
- rs121913589C;GCharcot-Marie-Tooth Disease, type 1Very important
- rs121913590A;GCharcot-Marie-Tooth Disease, type 1Very important
- rs121913593A;GCharcot-Marie-Tooth Disease, type 1Very important
- rs121913594C;TCharcot-Marie-Tooth Disease, type 1Very important
Notes
From SNPedia
Notes
aka c.270C>G (p.Asp90Glu or D90E) and also c.270C>A (p.Asp90Glu); both are likely to be pathogenic for Charcot-Marie-Tooth disease type 1B, a dominantly inherited disorder, according to ClinVar.
Source and license
Adapted from rs121913584 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.