rs200484060
A SNP in the DSG2 gene on chromosome 18. Its most notable genotype is G;G: Likely miscall if from Ancestry data; otherwise, ARVC mutation
- Gene
- DSG2
- Location
- Chr 1831,536,370 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GMost notableBadLikely miscall if from Ancestry data; otherwise, ARVC mutation
- G;TBadLikely miscall if from Ancestry data; otherwise, ARVC mutation
- T;TGoodcommon in clinvar
On SNPedia: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other DSG2 SNPs
- rs121913007A;GArrhythmogenic right ventricular dysplasiaVery important
- rs121913008A;GArrhythmogenic right ventricular dysplasiaVery important
- rs121913009A;GArrhythmogenic right ventricular dysplasiaVery important
- rs121913011A;GArrhythmogenic right ventricular dysplasiaVery important
- rs397516703-;TGArrhythmogenic right ventricular dysplasiaVery important
- rs397516712A;CArrhythmogenic right ventricular dysplasiaVery important
- rs553299589A;GArrhythmogenic right ventricular dysplasiaVery important
- rs750176752A;GArrhythmogenic right ventricular dysplasiaVery important
Notes
From SNPedia
Notes
aka c.1592T>G, p.Phe531Cys and F531C The rare rs200484060(G) allele is a possible ARVC-related mutation in DSG2 of uncertain pathogenicity (since it's so rare); but when seen in data from Ancestry.com, we believe it to be a likely miscall.
G;G
Seen too often in Ancestry v2 data compared to reported frequency worldwide, so likely to be a miscall in data from Ancestry. If your data is not from Ancestry, let us know.
G;T
Seen too often in Ancestry v2 data compared to reported frequency worldwide, so likely to be a miscall in data from Ancestry. If your data is not from Ancestry, let us know.
Source and license
Adapted from rs200484060 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.