rs104893930
A SNP in the SMN1 gene on chromosome 5. Its most notable genotype is A;A: Spinal muscular atrophy, type 2
- Gene
- SMN1
- Location
- Chr 570,938,845 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadSpinal muscular atrophy, type 2
- A;GBadcarrier of a spinal muscular atrophy disease allele
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;G), (G;G). 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
- rs104893931T;TSpinal muscular atrophy, type 3Very 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
rs104893930, also known as c.88G>A, p.Asp30Asn and D30N, is a mutation in the SMN1 gene on chromosome 5. The rare rs104893930(A) allele is a mutation associated with the recessively inherited type 2 spinal muscular atrophy. This SNP is referred to as i5005734 by 23andMe.
A;A
see discussion at rs104893930
A;G
see discussion at rs104893930
Source and license
Adapted from rs104893930 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.