rs104893931
A SNP in the SMN1 gene on chromosome 5. Its most notable genotype is T;T: Spinal muscular atrophy, type 3
- Gene
- SMN1
- Location
- Chr 570,938,888 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;TBadcarrier of a spinal muscular atrophy disease allele
- T;TMost notableBadSpinal muscular atrophy, type 3
On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other SMN1 SNPs
- rs75660264T;TSpinal muscular atrophy, type 3Very important
- rs76871093T;TSpinal muscular atrophy, type 2 or 3Very important
- rs77804083A;ASpinal muscular atrophy, type 2Very important
- rs104893922G;GSpinal muscular atrophy, type 1Very important
- rs104893930A;ASpinal muscular atrophy, type 2Very important
- rs104893932G;GSpinal muscular atrophy, type 3Very important
- rs104893934G;GSpinal muscular atrophy, type 1Very important
- rs104893935G;GSpinal muscular atrophy, type 1 or 2Very important
Notes
From SNPedia
Notes
rs104893931, also known as c.131A>T, p.Asp44Val and D44V, is a mutation in the SMN1 gene on chromosome 5. The rare rs104893931(T) allele is a mutation associated with the recessively inherited type 3 spinal muscular atrophy. This SNP is referred to as i5005735 by 23andMe.
A;T
see discussion at rs104893931
T;T
see discussion at rs104893931
Source and license
Adapted from rs104893931 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.