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rs118192150

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Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118192150(C;G)
Make rs118192150(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38584973
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192150
ebirs118192150
HLIrs118192150
Exacrs118192150
Varsomers118192150
Maprs118192150
PheGenIrs118192150
hapmaprs118192150
1000 genomesrs118192150
hgdprs118192150
ensemblrs118192150
gopubmedrs118192150
geneviewrs118192150
scholarrs118192150
googlers118192150
pharmgkbrs118192150
gwascentralrs118192150
openSNPrs118192150
23andMers118192150
23andMe allrs118192150
SNP Nexus

SNPshotrs118192150
SNPdbers118192150
MSV3drs118192150
GWAS Ctlgrs118192150
Max Magnitude0
ClinVar
Risk rs118192150(G,T;G,T)
Alt rs118192150(G,T;G,T)
Reference rs118192150(C;C)
Significance Pathogenic
Disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.39075613C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056236.1, RCV000119545.1,


[PMID 11709545] Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

OMIM117000
Desc
Variant
Relatedalso