rs28931610
A SNP in the DSP gene on chromosome 6. Its most notable genotype is T;T: carrier of a skin fragility/woolly hair syndrome allele
- Gene
- DSP
- Location
- Chr 67,584,358 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TBadcarrier of a skin fragility/woolly hair syndrome allele
- T;TMost notableBadcarrier of a skin fragility/woolly hair syndrome allele
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other DSP SNPs
- rs121912999A;GArrhythmogenic right ventricular dysplasiaVery important
- rs397516919A;GArrhythmogenic right ventricular dysplasiaVery important
- rs397516923C;TArrhythmogenic right ventricular dysplasiaVery important
- rs397516929C;TArrhythmogenic right ventricular dysplasiaVery important
- rs397516933C;TArrhythmogenic right ventricular dysplasiaVery important
- rs397516946C;TArrhythmogenic right ventricular dysplasiaVery important
- rs727502993-;ACArrhythmogenic right ventricular dysplasiaVery important
- rs727503000-;AArrhythmogenic right ventricular dysplasiaVery important
Notes
From SNPedia
Show notes, about 130 words
rs28931610, also known as R2366C or Arg2366C, is a SNP in the desmoplakin DSP gene on chromosome 6. The disabling keratoderma known as skin fragility-woolly hair syndrome (SFWHS) can be caused by either inheriting two copies of the [[rs28931610](T) allele or one copy plus another DSP gene mutation on the other chromosomal strand. This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.
C;T
Carrying one copy of the rs28931610(T) allele will usually mean being an unaffected carrier for skin fragility/woolly hair syndrome, a recessive condition.
T;T
Carrying two copies of the rs28931610(T) allele is reported to lead to skin fragility/woolly hair syndrome; see discussion at rs28931610.
Source and license
Adapted from rs28931610 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.