rs550921485

A SNP in the HPCA gene on chromosome 1. Its most notable genotype is A;A: Dystonia 2, torsion (DYT2) genotype

Gene
HPCA
Location
Chr 132,893,848 (GRCh38)
Highest magnitude
5.7Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadDystonia 2, torsion (DYT2) genotypeVery important · 5.7
  2. A;GBadCarrier of a dystonia (DYT2) mutationImportant · 3.0
  3. G;GGoodcommon in clinvarTypical · 0.0

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

Other HPCA SNPs

All HPCA SNPs

Notes

From SNPedia

Notes

aka c.568G>A, p.Ala190Thr or A190T

A;A

See HPCA for discussion

A;G

Unaffected in absence of another HPCA gene mutation; see HPCA

Source and license

Adapted from rs550921485 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.