rs118192169
A SNP in the RYR1 gene on chromosome 19. Its most notable genotype is -;TTCTACAACAAGAGCGAGGAT: likely severe central core disease
- Gene
- RYR1
- Location
- Chr 1938,580,445 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;TTCTACAACAAGAGCGAGGATMost notableBadlikely severe central core disease
- TTCTACAACAAGAGCGAGGAT;TTCTACAACAAGAGCGAGGATGoodcommon in clinvar
On SNPedia: (-;TTCTACAACAAGAGCGAGGAT), (TTCTACAACAAGAGCGAGGAT;TTCTACAACAAGAGCGAGGAT). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other RYR1 SNPs
- rs118192177C;TMalignant Hyperthermia susceptibilityVery important
- rs146876145C;TMalignant Hyperthermia susceptibilityVery important
- rs28933396A;Aquite likely to have central core diseaseVery important
- rs118192168A;Alikely severe central core diseaseVery important
- rs118192171AC;TTlikely severe central core diseaseVery important
- rs63749869A;Glikely severe central core diseaseVery important
- rs193922781C;Tmalignant hyperthermiaVery important
- rs193922842C;Gmalignant hyperthermiaVery important
Notes
From SNPedia
Notes
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.
-;TTCTACAACAAGAGCGAGGAT
Apparently a dominant form of this central myopathic disease.
Source and license
Adapted from rs118192169 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.