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rs1057520711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520711(A;A)
Make rs1057520711(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position38580112
GeneRYR1
is asnp
is mentioned by
dbSNPrs1057520711
dbSNP (classic)rs1057520711
ClinGenrs1057520711
ebirs1057520711
HLIrs1057520711
Exacrs1057520711
Gnomadrs1057520711
Varsomers1057520711
LitVarrs1057520711
Maprs1057520711
PheGenIrs1057520711
Biobankrs1057520711
1000 genomesrs1057520711
hgdprs1057520711
ensemblrs1057520711
geneviewrs1057520711
scholarrs1057520711
googlers1057520711
pharmgkbrs1057520711
gwascentralrs1057520711
openSNPrs1057520711
23andMers1057520711
SNPshotrs1057520711
SNPdbers1057520711
MSV3drs1057520711
GWAS Ctlgrs1057520711
Max Magnitude0
ClinVar
Risk rs1057520711(A;A)
Alt rs1057520711(A;A)
Reference Rs1057520711(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene RYR1
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.39070752C>A
CLNSRC
CLNACC RCV000420141.1,