rs62508727
A SNP in the PAH gene on chromosome 12. Its most notable genotype is -;TCA: Carrier of a phenylketonuria mutation
- Gene
- PAH
- Location
- Chr 12102,894,801 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;TCAMost notableBadCarrier of a phenylketonuria mutation
- D;IBadmiscalled by 23andMe, but otherwise indicates being a carrier of a phenylketonuria mutation
- I;IGoodNo summary available.
- TCA;TCAGoodcommon in clinvar
On SNPedia: (-;TCA), (D;I), (I;I), (TCA;TCA). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PAH SNPs
- rs5030841G;GPhenylketonuriaVery important
- rs5030843T;TPhenyketonuriaVery important
- rs5030846A;APhenyketonuriaVery important
- rs5030847A;APhenyketonuriaVery important
- rs5030849T;TPHENYLKETONURIA, MILDVery important
- rs5030850A;APhenyketonuriaVery important
- rs5030851A;APhenyketonuriaVery important
- rs5030852T;TPhenylketonuriaVery important
Notes
From SNPedia
Notes
rs62508727, also known as c.284_286delTCA and p.Ile95del, represents a mutation in the PAH (phenylketonuria) gene on chromosome 12.
-;TCA
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.
D;I
For 23andMe users this genotype most commonly occurs as the result of a genotyping error in their testing platform. If you were tested by a different company, this is more likely to be accurate. Please contact us if you were tested by another company since we would like to know if there is another company (besides 23andMe) testing this genotype so we can monitor their accuracy too.
Source and license
Adapted from rs62508727 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.