rs61755320
A SNP in the SPG7 gene on chromosome 16. Its most notable genotype is T;T: Spastic paraplegia, type 7; however, possibly reduced penetrance
- Gene
- SPG7
- Location
- Chr 1689,546,737 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TBadUnaffected carrier of a mutation for spastic paraplegia, type 7
- T;TMost notableBadSpastic paraplegia, type 7; however, possibly reduced penetrance
On SNPedia: (C;C), (C;T), (T;T). 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
rs61755320, also known as c.1529C>T, p.Ala510Val and A510V, represents a variant in the SPG7 gene on chromosome 16. The minor allele, rs61755320(T), appears to be associated with autosomal recessive spastic paraplegia, type 7, a disease known "to have a variable, but generally adult, age of onset". An extensive discussion of whether this variant is pathogenic can be found in ; the consensus amongst nine labs seems to be that this mutation, which has a higher frequency than similar mutations, may be of reduced penetrance and may represent an allele that is more likely to be pathogenic when paired with a more deleterious allele than when homozygous (on it's own).
C;T
see rs61755320
T;T
see rs61755320
Source and license
Adapted from rs61755320 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.