rs28940271

A SNP in the ABCA12 gene on chromosome 2. Its most notable genotype is T;T: Lamellar ichthyosis, type 2

Gene
ABCA12
Location
Chr 2214,980,608 (GRCh38)
Highest magnitude
4.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadLamellar ichthyosis, type 2Very important · 4.0
  2. C;TBadcarrier for Lamellar ichthyosis, type 2Worth knowing · 2.0
  3. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs28940271 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.

Other ABCA12 SNPs

All ABCA12 SNPs

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 rs28940271 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.