rs104893915

A SNP in the SLC26A2 gene on chromosome 5. Its most notable genotype is T;T: Several bone disorders associated with this genotype

Gene
SLC26A2
Location
Chr 5149,980,428 (GRCh38)
Highest magnitude
7.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TBadcarrier of one allele associated with several bone disordersImportant · 3.0
  3. T;TMost notableBadSeveral bone disorders associated with this genotypeVery important · 7.0

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other SLC26A2 SNPs

All SLC26A2 SNPs

Notes

From SNPedia

Notes

rs104893915, also known as c.835C>T, p.Arg279Trp and R279W, is a mutation in the SLC26A2 gene on chromosome 5. The rare rs104893915(T) variant, when inherited recessively or as a compound heterozygote, has been considered a causative mutation for several conditions, including: * Atelosteogenesis type 2 * Diastrophic dysplasia * Multiple epiphyseal dysplasia, type 4 See OMIM 606718.0002 for more information.

C;T

see discussion at rs104893915

T;T

see discussion at rs104893915

Source and license

Adapted from rs104893915 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.