rs200133991

A SNP in the C19orf12 gene on chromosome 19. Its most notable genotype is C;T: Carrier of a spastic paraplegia mutation

Gene
C19orf12
Location
Chr 1929,708,290 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadCarrier of a spastic paraplegia mutationImportant · 3.0

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

Conditions, medicines and genes

Notes

From SNPedia

Notes

aka c.157G>A, p.(Gly53Arg) Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegia; implies the minor allele is a recessive mutation.

C;T

Unaffected in absence of a second C19orf12 gene mutation; see publication cited via main rs-page.

Source and license

Adapted from rs200133991 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.