rs35859650

A SNP in the AMPD1 gene on chromosome 1. Its most notable genotype is A;G: Carrier of a possible muscle AMP deaminase deficiency mutation

Gene
AMPD1
Location
Chr 1114,677,972 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of a possible muscle AMP deaminase deficiency mutationImportant · 3.0
  2. G;GGoodcommon in clinvarTypical · 0.0

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

Other AMPD1 SNPs

All AMPD1 SNPs

Notes

From SNPedia

Notes

AMPD1 gene, c.1261C>T (p.Arg421Trp) One report in ClinVar (based on OMIM) of a single individual in which this is reported to be a recessively inherited mutation leading to muscle AMP deaminase deficiency.

A;G

Unaffected in absence of a second AMPD1 gene mutation, even if this is really a disease-causing mutation.

Source and license

Adapted from rs35859650 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.