rs62642941
A SNP in the PAH gene on chromosome 12. Its most notable genotype is -;-: Phenylketonuria
- Gene
- PAH
- Location
- Chr 12102,843,716 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Most notableBadPhenylketonuria
- -;ABadCarrier of a phenylketonuria mutation
- D;DGoodcommon/normal UNLESS DATA IS NOT FROM 23andME
- D;IBadcarrier of a Phenylketonuria allele
- I;IBadPhenylketonuria - ONLY IF DATA IS FROM 23andMe
- A;AGoodcommon in clinvar
SNPedia records rs62642941 on the minus strand: (-;-), (-;T), (D;D), (D;I), (I;I), (T;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
Show notes, about 180 words
-;A
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.
D;D
In dbSNP, the variant/pathogenic allele for rs62642941 is the deletion allele. However, even though they use the same identifier, the (D;D) genotype as defined by 23andMe is actually the normal (reference) genotype for this phenylketonuria related PKU gene variant. All other companies correctly assign this (D;D) genotype as being magnitude 6, pathogenic for phenylketonuria.
D;I
In dbSNP, the variant/pathogenic allele for rs62642941 is the deletion allele. However, even though they use the same identifier, the (I) allele as defined by 23andMe appears to be the pathogenic allele for this phenylketonuria related PKU gene variant.
I;I
In dbSNP, the variant/pathogenic allele for rs62642941 is the deletion allele. However, even though they use the same identifier, the (I;I) genotype as defined by 23andMe appears to be the homozygote minor genotype causative for phenylketonuria. All other companies correctly assign this (I;I) genotype for the completely normal genotype, which is magnitude 0.
Source and license
Adapted from rs62642941 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.