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rs35180584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;G) 3 susceptibility to malignant hyperthermia
Make rs35180584(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38505358
GeneRYR1
is asnp
is mentioned by
dbSNPrs35180584
ebirs35180584
HLIrs35180584
Exacrs35180584
Varsomers35180584
Maprs35180584
PheGenIrs35180584
hapmaprs35180584
1000 genomesrs35180584
hgdprs35180584
ensemblrs35180584
gopubmedrs35180584
geneviewrs35180584
scholarrs35180584
googlers35180584
pharmgkbrs35180584
gwascentralrs35180584
openSNPrs35180584
23andMers35180584
23andMe allrs35180584
SNP Nexus

SNPshotrs35180584
SNPdbers35180584
MSV3drs35180584
GWAS Ctlgrs35180584
GMAF0.0101
Max Magnitude3
OMIM180901
Desc
Variant0023
Relatedalso


ClinVar
Risk rs35180584(G;G)
Alt rs35180584(G;G)
Reference rs35180584(C;C)
Significance Other
Disease Malignant hyperthermia not provided not specified Malignant hypothermia
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 not provided not specified Malignant hypothermia
Reversed 0
HGVS NC_000019.9:g.38995998C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013857.2, RCV000119746.1, RCV000147446.1, RCV000202878.1, RCV000209984.1,



rs35180584, aka p.Thr2787Ser, may be an "aggravating" mutation associated with malignant hyperthermia.[PMID 14732627]


[PMID 16163667] Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.


GET Evidence
RYR1-T2787S
aa_change Thr2787Ser
aa_change_short T2787S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0105038
summary