rs912983346

A SNP in the SPG7 gene on chromosome 16. Its most notable genotype is C;G: Carrier of a spastic paraplegia mutation

Gene
SPG7
Location
Chr 1689,513,037 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

On SNPedia: (C;G), (G;G). 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.376G>C, p.(Glu126Gln) 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;G

Unaffected in absence of a second SPG7 gene mutation; see publication cited via main rs-page.

Source and license

Adapted from rs912983346 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.