rs536814318
A SNP in the HMBS gene on chromosome 11. Its most notable genotype is A;A: Likely porphyria mutation
- Gene
- HMBS
- Location
- Chr 11119,091,446 (GRCh38)
- Highest magnitude
- 4.4Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadLikely porphyria mutation
- A;GBadLikely porphyria mutation
- G;GGoodcommon/normal
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other HMBS SNPs
- rs34413634T;TPorphyria, acute intermittentVery important
- rs118204094T;TPorphyria, acute intermittentVery important
- rs118204095A;APorphyria, acute intermittentVery important
- rs118204096A;APorphyria, acute intermittentVery important
- rs118204097T;TPorphyria, acute intermittentVery important
- rs118204098A;APorphyria, acute intermittentVery important
- rs118204099G;GPorphyria, acute intermittentVery important
- rs118204100A;APorphyria, acute intermittentVery important
Notes
From SNPedia
Notes
aka c.532G>A, p.Asp178Asn, D178N HMBS enzyme from the variant allele of this SNP is reported to have 81% of the activity of the normal, wild-type; it is reported as likely to be pathogenic in ClinVar, presumably for acute intermittent porphyria.
A;A
see discussion at rs536814318
A;G
see discussion at rs536814318
Source and license
Adapted from rs536814318 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.