rs5030849
A SNP in the PAH gene on chromosome 12. Its most notable genotype is T;T: PHENYLKETONURIA, MILD
- Gene
- PAH
- Location
- Chr 12102,852,875 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadPHENYLKETONURIA, MILD
- C;TBadCarrier of a phenylketonuria mutation
- C;GBadCarrier of a phenylketonuria mutation
- C;CGoodcommon in clinvar
SNPedia records rs5030849 on the minus strand: (A;A), (A;G), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageT;T 0% C;T 0% C;G 0% C;C 100%
- European ancestry (Utah)T;T 0% C;T 0% C;G 0% C;C 100%
- Han Chinese (Beijing)T;T 0% C;T 0% C;G 0% C;C 100%
- Japanese (Tokyo)T;T 0% C;T 0% C;G 0% C;C 100%
- Yoruba (Nigeria)T;T 0% C;T 0% C;G 0% C;C 100%
Related
Conditions, medicines and genes
Other PAH SNPs
- rs5030841G;GPhenylketonuriaVery important
- rs5030843T;TPhenyketonuriaVery important
- rs5030846A;APhenyketonuriaVery important
- rs5030847A;APhenyketonuriaVery important
- rs5030850A;APhenyketonuriaVery important
- rs5030851A;APhenyketonuriaVery important
- rs5030852T;TPhenylketonuriaVery important
- rs5030853A;APhenylketonuriaVery important
Notes
From SNPedia
Notes
aka c.782G>C (p.Arg261Pro or R261P) and also c.782G>A (p.Arg261Gln or R261Q)
C;T
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.
C;G
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.
Source and license
Adapted from rs5030849 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.