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rs1057518970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518970(C;T)
Make rs1057518970(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position38448398
GeneRYR1
is asnp
is mentioned by
dbSNPrs1057518970
dbSNP (old)rs1057518970
ClinGenrs1057518970
ebirs1057518970
HLIrs1057518970
Exacrs1057518970
Gnomadrs1057518970
Varsomers1057518970
Maprs1057518970
PheGenIrs1057518970
Biobankrs1057518970
1000 genomesrs1057518970
hgdprs1057518970
ensemblrs1057518970
gopubmedrs1057518970
geneviewrs1057518970
scholarrs1057518970
googlers1057518970
pharmgkbrs1057518970
gwascentralrs1057518970
openSNPrs1057518970
23andMers1057518970
23andMe allrs1057518970
SNPshotrs1057518970
SNPdbers1057518970
MSV3drs1057518970
GWAS Ctlgrs1057518970
Max Magnitude0
ClinVar
Risk rs1057518970(T;T)
Alt rs1057518970(T;T)
Reference Rs1057518970(C;C)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy Myopathy Respiratory insufficiency
Variation info
Gene RYR1
CLNDBN Congenital muscular dystrophy Myopathy Respiratory insufficiency
Reversed 0
HGVS NC_000019.9:g.38939038C>T
CLNSRC
CLNACC RCV000415190.1,