rs28940268
A SNP in the ABCA12 gene on chromosome 2. Its most notable genotype is T;T: Lamellar ichthyosis, type 2
- Gene
- ABCA12
- Location
- Chr 2214,986,563 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadLamellar ichthyosis, type 2
- C;TBadcarrier for Lamellar ichthyosis, type 2
- C;CGoodcommon in clinvar
SNPedia records rs28940268 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.
Related
Notes
From SNPedia
Notes
This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.
Source and license
Adapted from rs28940268 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.