rs5030855

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

Gene
PAH
Location
Chr 12102,843,790 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadPhenylketonuriaVery important · 6.0
  2. C;TBadCarrier of a phenylketonuria mutationImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs5030855 on the minus strand: (A;A), (A;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

This PKU mutation is also known as IVS10AS, IVS10nt546 or c.1066-11G>A, and is reported in OMIM as being seen relatively often in Mediterranean countries, South America, and a certain population of Amish in Ohio. Phenylketonuria

C;T

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

Source and license

Adapted from rs5030855 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.