rs62642926

A SNP in the PAH gene on chromosome 12. Its most notable genotype is C;C: Phenylketonuria

Gene
PAH
Location
Chr 12102,912,842 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon/normalTypical · 0.0
  2. C;GBadCarrier of a phenylketonuria mutationImportant · 3.0
  3. C;CMost notableBadPhenylketonuriaVery important · 6.0

SNPedia records rs62642926 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other PAH SNPs

All PAH SNPs

Notes

From SNPedia

Notes

rs62642926, also known as c.117C>G, p.Phe39Leu and F39L, represents a mutation in the PAH gene on chromosome 12. The quite rare rs62642926(G) allele (as represented on the minus strand in GRCh37 and GRCh38) leads to phenylketonuria when inherited in two copies or as a compound heterozygote. See also OMIM 612349.0031 This SNP is renamed as i4000470 by 23andMe. FTDNA & MyHeritage name: VG12S8223

C;G

Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.

Source and license

Adapted from rs62642926 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.