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rs118192171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;TT) 5 likely severe central core disease
(TT;TT) 0 common in clinvar


Make rs118192171(AC;AC)
ReferenceGRCh38 38.1/141
Chromosome19
Position38585057
GeneRYR1
is asnp
is mentioned by
dbSNPrs118192171
ebirs118192171
HLIrs118192171
Exacrs118192171
Varsomers118192171
Maprs118192171
PheGenIrs118192171
hapmaprs118192171
1000 genomesrs118192171
hgdprs118192171
ensemblrs118192171
gopubmedrs118192171
geneviewrs118192171
scholarrs118192171
googlers118192171
pharmgkbrs118192171
gwascentralrs118192171
openSNPrs118192171
23andMers118192171
23andMe allrs118192171
SNP Nexus

SNPshotrs118192171
SNPdbers118192171
MSV3drs118192171
GWAS Ctlgrs118192171
Max Magnitude5
OMIM180901
Desc
Variant0033
Relatedalso
ClinVar
Risk rs118192171(AC;AC)
Alt rs118192171(AC;AC)
Reference rs118192171(TT;TT)
Significance Pathogenic
Disease Neuromuscular disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Neuromuscular disease, congenital, with uniform type 1 fiber Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.39075697_39075698delTTinsAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013868.17, RCV000013869.23, RCV000119559.1,


[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.


[PMID 17538032] Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.