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rs143849895

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143849895(A;A)
Make rs143849895(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38566953
GeneRYR1
is asnp
is mentioned by
dbSNPrs143849895
ebirs143849895
HLIrs143849895
Exacrs143849895
Varsomers143849895
Maprs143849895
PheGenIrs143849895
hapmaprs143849895
1000 genomesrs143849895
hgdprs143849895
ensemblrs143849895
gopubmedrs143849895
geneviewrs143849895
scholarrs143849895
googlers143849895
pharmgkbrs143849895
gwascentralrs143849895
openSNPrs143849895
23andMers143849895
23andMe allrs143849895
SNP Nexus

SNPshotrs143849895
SNPdbers143849895
MSV3drs143849895
GWAS Ctlgrs143849895
Max Magnitude0
ClinVar
Risk rs143849895(A,T;A,T)
Alt rs143849895(A,T;A,T)
Reference rs143849895(G;G)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion
Variation info
Gene RYR1
CLNDBN Congenital myopathy with fiber type disproportion
Reversed 0
HGVS NC_000019.9:g.39057593G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034927.1,


[PMID 20583297] Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.