i4000476
A SNP in the PAH gene on chromosome 12. Its most notable genotype is C;C: Phenylketonuria
- Gene
- PAH
- Location
- Chr 12103,238,137 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadPhenylketonuria
- C;GBadPhenylketonuria carrier
- G;GGoodnormal
On SNPedia: (C;C), (C;G), (G;G). 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
Phenylketonuria rs62516092
C;C
Phenylketonuria
C;G
Phenylketonuria
Source and license
Adapted from i4000476 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.