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rs80338782

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338782(A;A)
Make rs80338782(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position201060816
GeneCACNA1S
is asnp
is mentioned by
dbSNPrs80338782
ebirs80338782
HLIrs80338782
Exacrs80338782
Varsomers80338782
Maprs80338782
PheGenIrs80338782
hapmaprs80338782
1000 genomesrs80338782
hgdprs80338782
ensemblrs80338782
gopubmedrs80338782
geneviewrs80338782
scholarrs80338782
googlers80338782
pharmgkbrs80338782
gwascentralrs80338782
openSNPrs80338782
23andMers80338782
23andMe allrs80338782
SNP Nexus

SNPshotrs80338782
SNPdbers80338782
MSV3drs80338782
GWAS Ctlgrs80338782
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs80338782(A,G,T;A,G,T)
Alt rs80338782(A,G,T;A,G,T)
Reference rs80338782(C;C)
Significance Untested
Disease Hypokalaemic periodic paralysis not provided
Variation info
Gene CACNA1S
CLNDBN Hypokalaemic periodic paralysis not provided
Reversed 1
HGVS NC_000001.10:g.201029944G>A; NC_000001.10:g.201029944G>T
CLNSRC ClinVar
CLNACC RCV000148445.1, RCV000144372.1,


[PMID 9199552OA-icon.png] 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.


[PMID 10590402] Genetics and pathogenesis of malignant hyperthermia.


[PMID 20431982] A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene.