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rs113460156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113460156(C;C)
Make rs113460156(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position38473772
GeneRYR1
is asnp
is mentioned by
dbSNPrs113460156
dbSNP (old)rs113460156
ClinGenrs113460156
ebirs113460156
HLIrs113460156
Exacrs113460156
Gnomadrs113460156
Varsomers113460156
LitVarrs113460156
Maprs113460156
PheGenIrs113460156
Biobankrs113460156
1000 genomesrs113460156
hgdprs113460156
ensemblrs113460156
gopubmedrs113460156
geneviewrs113460156
scholarrs113460156
googlers113460156
pharmgkbrs113460156
gwascentralrs113460156
openSNPrs113460156
23andMers113460156
23andMe allrs113460156
SNPshotrs113460156
SNPdbers113460156
MSV3drs113460156
GWAS Ctlgrs113460156
Max Magnitude0
ClinVar
Risk rs113460156(A;A) rs113460156(C;C)
Alt rs113460156(A;A) rs113460156(C;C)
Reference Rs113460156(G;G)
Significance Probable-Pathogenic
Disease Muscular hypotonia
Variation info
Gene RYR1
CLNDBN Muscular hypotonia
Reversed 0
HGVS NC_000019.9:g.38964412G>A
CLNSRC
CLNACC RCV000490681.1,