rs1800559
A SNP in the CACNA1S gene on chromosome 1. Its most notable genotype is T;T: susceptibility to malignant hyperthermia
- Gene
- CACNA1S
- Location
- Chr 1201,060,815 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadsusceptibility to malignant hyperthermia
- C;TBadsusceptibility to malignant hyperthermia
- C;CGoodcommon in complete genomics
SNPedia records rs1800559 on the minus strand: (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 CACNA1S SNPs
Notes
From SNPedia
Show notes, about 140 words
rs1800559, also known as Arg1086His or R1086H, is a SNP in the CACNA1S gene on chromosome 1. The rs1800559(A) allele is reported to be associated with malignant hyperthermia, type 5. This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Genetics and pathogenesis of malignant hyperthermia. Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.
T;T
see discussion at rs1800559
C;T
see discussion at rs1800559
Source and license
Adapted from rs1800559 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.