rs74486803
A SNP in the PAH gene on chromosome 12. Its most notable genotype is A;A: Non-phenylketonuria hyperphenylalaninemia genotype
- Gene
- PAH
- Location
- Chr 12102,855,315 (GRCh38)
- Highest magnitude
- 5.9Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadNon-phenylketonuria hyperphenylalaninemia genotype
- A;CBadCarrier of a non-phenylketonuria hyperphenylalaninemia allele
- C;CGoodcommon in clinvar
- C;TBadCarrier of a phenylketonuria mutation
On SNPedia: (A;A), (A;C), (C;C), (C;T). 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
A;A
see hyperphenylalaninemia and the ClinVar link on the SNP page for this SNP
A;C
see hyperphenylalaninemia and the ClinVar link on the SNP page for this SNP
C;T
Unaffected in absence of a second PAH gene mutation
Source and license
Adapted from rs74486803 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.