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rs121908461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908461(C;T)
Make rs121908461(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137870767
GeneLOC101928005, MYOT
is asnp
is mentioned by
dbSNPrs121908461
dbSNP (classic)rs121908461
ClinGenrs121908461
ebirs121908461
HLIrs121908461
Exacrs121908461
Gnomadrs121908461
Varsomers121908461
LitVarrs121908461
Maprs121908461
PheGenIrs121908461
Biobankrs121908461
1000 genomesrs121908461
hgdprs121908461
ensemblrs121908461
geneviewrs121908461
scholarrs121908461
googlers121908461
pharmgkbrs121908461
gwascentralrs121908461
openSNPrs121908461
23andMers121908461
SNPshotrs121908461
SNPdbers121908461
MSV3drs121908461
GWAS Ctlgrs121908461
Max Magnitude0
OMIM604103
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908461(T;T)
Alt rs121908461(T;T)
Reference Rs121908461(C;C)
Significance Pathogenic
Disease Spheroid body myopathy
Variation info
Gene MYOT LOC101928005
CLNDBN Spheroid body myopathy
Reversed 0
HGVS NC_000005.9:g.137206456C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006196.3,