rs120074171
A SNP in the HGD gene on chromosome 3. Its most notable genotype is A;C: Carrier of a alkaptonuria mutation
- Gene
- HGD
- Location
- Chr 3120,638,471 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 0%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- A;CMost notableBadCarrier of a alkaptonuria mutation
SNPedia records rs120074171 on the minus strand: (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other HGD SNPs
- rs28941783C;TCarrier of a alkaptonuria mutationImportant
- rs28942100A;GCarrier of a alkaptonuria mutationImportant
- rs120074172C;TCarrier of a alkaptonuria mutationImportant
- rs120074173C;TCarrier of a alkaptonuria mutationImportant
- rs120074174C;TCarrier of a alkaptonuria mutationImportant
- rs149165166A;CCarrier of a alkaptonuria mutationImportant
- rs200808744C;TCarrier of a alkaptonuria mutationImportant
- rs397515346-;CCarrier of a alkaptonuria mutationImportant
Notes
From SNPedia
Notes
A;C
Unaffected in absence of a second HGD gene mutation
Source and license
Adapted from rs120074171 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.