rs75030631
A SNP in the SMN1 gene on chromosome 5. Its most notable genotype is C;G: carrier of a spinal muscular atrophy disease allele
- Gene
- SMN1
- Location
- Chr 570,925,108 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GMost notableBadcarrier of a spinal muscular atrophy disease allele
On SNPedia: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
- rs104893931T;TSpinal muscular atrophy, type 3Very important
- rs104893932G;GSpinal muscular atrophy, type 3Very important
- rs104893934G;GSpinal muscular atrophy, type 1Very important
Notes
From SNPedia
Notes
C;G
see discussion at SMN1
Source and license
Adapted from rs75030631 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.