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rs1801086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1801086(A;A)
Make rs1801086(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38446710
GeneRYR1
is asnp
is mentioned by
dbSNPrs1801086
ebirs1801086
HLIrs1801086
Exacrs1801086
Varsomers1801086
Maprs1801086
PheGenIrs1801086
hapmaprs1801086
1000 genomesrs1801086
hgdprs1801086
ensemblrs1801086
gopubmedrs1801086
geneviewrs1801086
scholarrs1801086
googlers1801086
pharmgkbrs1801086
gwascentralrs1801086
openSNPrs1801086
23andMers1801086
23andMe allrs1801086
SNP Nexus

SNPshotrs1801086
SNPdbers1801086
MSV3drs1801086
GWAS Ctlgrs1801086
Max Magnitude0
ClinVar
Risk rs1801086(A,C,T;A,C,T)
Alt rs1801086(A,C,T;A,C,T)
Reference rs1801086(G;G)
Significance Other
Disease Malignant hyperthermia not provided
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia, susceptibility to, 1 not provided
Reversed 0
HGVS NC_000019.9:g.38937350G>A; NC_000019.9:g.38937350G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013831.2, RCV000119713.1, RCV000119714.1,


[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.


[PMID 18564801] Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.