rs1057518886
A SNP in the HMBS gene on chromosome 11. Its most notable genotype is -;-: likely to be associated with acute intermittent porphyria
- Gene
- HMBS
- Location
- Chr 11119,090,045 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadlikely to be associated with acute intermittent porphyria
- -;CBadlikely to be associated with acute intermittent porphyria
- C;CGoodcommon/normal
On SNPedia: (-;-), (-;C), (C;C). 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
c.400delC (p.Leu134Terfs) appears to be acute intermittent porphyria related but isn't tagged as such in ClinVar
-;-
see link at rs1057518886; note recommended actions for carriers of acute intermittent porphyria mutations
-;C
see link at rs1057518886; note recommended actions for carriers of acute intermittent porphyria mutations
Source and license
Adapted from rs1057518886 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.