rs1061517

A SNP in the SDHA gene on chromosome 5. Its most notable genotype is A;G: Hereditary PGL/PCC Syndrome

Gene
SDHA
Location
Chr 5218,356 (GRCh38)
Highest magnitude
6.2Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;CBadCarrier of a mitochondrial complex deficiency mutationImportant · 3.0
  3. A;GMost notableBadHereditary PGL/PCC SyndromeVery important · 6.2
  4. A;TBadHereditary PGL/PCC SyndromeVery important · 6.2
  5. G;GNot ratedObserved in a family trio, seems harmless (but has been published as associated with Leigh syndrome)Typical · 0.0

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

Other SDHA SNPs

All SDHA SNPs

Notes

From SNPedia

Notes

aka c.1A>T (p.Met1Leu), as well as c.1A>C (p.Met1Leu), as well as c.1A>G (p.Met1Val); according to ClinVar, the first is likely to be pathogenic for paragangliomas; the second is a mitochondrial II complex deficiency pathogenic mutation; and the third is both.

A;C

Unaffected in absence of a second SDHA gene mutation

Source and license

Adapted from rs1061517 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.