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.
- C;GMost notableBadCarrier of a spastic paraplegia mutation
- G;GGoodcommon/normal
On SNPedia: (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.