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rs121908460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908460(G;T)
Make rs121908460(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137870935
GeneLOC101928005, MYOT
is asnp
is mentioned by
dbSNPrs121908460
dbSNP (classic)rs121908460
ClinGenrs121908460
ebirs121908460
HLIrs121908460
Exacrs121908460
Gnomadrs121908460
Varsomers121908460
LitVarrs121908460
Maprs121908460
PheGenIrs121908460
Biobankrs121908460
1000 genomesrs121908460
hgdprs121908460
ensemblrs121908460
geneviewrs121908460
scholarrs121908460
googlers121908460
pharmgkbrs121908460
gwascentralrs121908460
openSNPrs121908460
23andMers121908460
SNPshotrs121908460
SNPdbers121908460
MSV3drs121908460
GWAS Ctlgrs121908460
Max Magnitude0
OMIM604103
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908460(T;T)
Alt rs121908460(T;T)
Reference Rs121908460(G;G)
Significance Pathogenic
Disease Myotilinopathy
Variation info
Gene MYOT LOC101928005
CLNDBN Myotilinopathy
Reversed 0
HGVS NC_000005.9:g.137206624G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006195.5,