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rs193922810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922810(A;A)
Make rs193922810(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position38499984
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922810
dbSNP (classic)rs193922810
ClinGenrs193922810
ebirs193922810
HLIrs193922810
Exacrs193922810
Gnomadrs193922810
Varsomers193922810
LitVarrs193922810
Maprs193922810
PheGenIrs193922810
Biobankrs193922810
1000 genomesrs193922810
hgdprs193922810
ensemblrs193922810
geneviewrs193922810
scholarrs193922810
googlers193922810
pharmgkbrs193922810
gwascentralrs193922810
openSNPrs193922810
23andMers193922810
SNPshotrs193922810
SNPdbers193922810
MSV3drs193922810
GWAS Ctlgrs193922810
Max Magnitude0
ClinVar
Risk rs193922810(A;A) rs193922810(T;T)
Alt rs193922810(A;A) rs193922810(T;T)
Reference Rs193922810(G;G)
Significance Untested
Disease not provided Malignant hyperthermia
Variation info
Gene RYR1
CLNDBN not provided Malignant hyperthermia, susceptibility to, 1
Reversed 0
HGVS NC_000019.9:g.38990624G>A; NC_000019.9:g.38990624G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000119696.3, RCV000148824.1, RCV000119697.1,