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rs1057518940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518940(A;A)
Make rs1057518940(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position38499718
GeneRYR1
is asnp
is mentioned by
dbSNPrs1057518940
dbSNP (old)rs1057518940
ClinGenrs1057518940
ebirs1057518940
HLIrs1057518940
Exacrs1057518940
Gnomadrs1057518940
Varsomers1057518940
LitVarrs1057518940
Maprs1057518940
PheGenIrs1057518940
Biobankrs1057518940
1000 genomesrs1057518940
hgdprs1057518940
ensemblrs1057518940
gopubmedrs1057518940
geneviewrs1057518940
scholarrs1057518940
googlers1057518940
pharmgkbrs1057518940
gwascentralrs1057518940
openSNPrs1057518940
23andMers1057518940
23andMe allrs1057518940
SNPshotrs1057518940
SNPdbers1057518940
MSV3drs1057518940
GWAS Ctlgrs1057518940
Max Magnitude0
ClinVar
Risk rs1057518940(A;A)
Alt rs1057518940(A;A)
Reference Rs1057518940(G;G)
Significance Pathogenic
Disease Congenital contracture Delayed gross motor development Proximal amyotrophy Short stature
Variation info
Gene RYR1
CLNDBN Congenital contracture Delayed gross motor development Proximal amyotrophy Short stature
Reversed 0
HGVS NC_000019.9:g.38990358G>A
CLNSRC
CLNACC RCV000414976.1,