rs145522851

A SNP in the SPTBN2 gene on chromosome 11. Its most notable genotype is C;T: Possible association with spinocerebellar ataxia

Gene
SPTBN2
Location
Chr 1166,685,935 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TMost notableBadPossible association with spinocerebellar ataxiaImportant · 3.0

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

Notes

From SNPedia

Notes

aka R2370H Classified by ACMG guidelines as of "uncertain significance" for a form of spinocerebellar ataxia; in , this variant appears to have some effect even if inherited in only one copy (see paper for discussion) and so is tagged as likely to be pathogenic.

C;T

see discussion and links via main rs-page

Source and license

Adapted from rs145522851 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.