rs775863165

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 132,889,110 (GRCh38)
Highest magnitude
5.7Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadDystonia 2, torsion (DYT2) genotypeVery important · 5.7
  2. A;CBadCarrier of a dystonia (DYT2) mutationImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0
  4. C;TBadCarrier of a mutation in the HPCA gene, but significance unclearImportant · 3.0

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

Conditions, medicines and genes

Other HPCA SNPs

All HPCA SNPs

Notes

From SNPedia

Notes

Two variant alleles are known for rs775863165; the c.212C>A, p.Thr71Asn or T71N variant is reported to be a mutation leading to dystonia 2 (torsion; DYT2), whereas the c.212C>T (p.Thr71Ile) variant, while observed to exist, has not to our knowledge been reported so far in a publication as associated with DYT2.

A;A

See HPCA for discussion

A;C

Unaffected in absence of another HPCA gene mutation; see HPCA

C;T

see rs775863165

Source and license

Adapted from rs775863165 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.