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rs193922768

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922768(C;T)
Make rs193922768(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome19
Position38455471
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922768
dbSNP (classic)rs193922768
ClinGenrs193922768
ebirs193922768
HLIrs193922768
Exacrs193922768
Gnomadrs193922768
Varsomers193922768
LitVarrs193922768
Maprs193922768
PheGenIrs193922768
Biobankrs193922768
1000 genomesrs193922768
hgdprs193922768
ensemblrs193922768
geneviewrs193922768
scholarrs193922768
googlers193922768
pharmgkbrs193922768
gwascentralrs193922768
openSNPrs193922768
23andMers193922768
23andMe allrs193922768
SNPshotrs193922768
SNPdbers193922768
MSV3drs193922768
GWAS Ctlgrs193922768
Max Magnitude0
ClinVar
Risk rs193922768(A;A) rs193922768(G;G) rs193922768(T;T)
Alt rs193922768(A;A) rs193922768(G;G) rs193922768(T;T)
Reference Rs193922768(C;C)
Significance Probable-Pathogenic
Disease Malignant hyperthermia not provided
Variation info
Gene RYR1
CLNDBN Malignant hyperthermia not provided
Reversed 0
HGVS NC_000019.9:g.38946111C>A; NC_000019.9:g.38946111C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000357828.1, RCV000119577.1,