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rs121908457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908457(C;T)
Make rs121908457(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position137870815
GeneLOC101928005, MYOT
is asnp
is mentioned by
dbSNPrs121908457
ebirs121908457
HLIrs121908457
Exacrs121908457
Varsomers121908457
Maprs121908457
PheGenIrs121908457
hapmaprs121908457
1000 genomesrs121908457
hgdprs121908457
ensemblrs121908457
gopubmedrs121908457
geneviewrs121908457
scholarrs121908457
googlers121908457
pharmgkbrs121908457
gwascentralrs121908457
openSNPrs121908457
23andMers121908457
23andMe allrs121908457
SNP Nexus

SNPshotrs121908457
SNPdbers121908457
MSV3drs121908457
GWAS Ctlgrs121908457
Max Magnitude0
OMIM604103
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908457(T;T)
Alt rs121908457(T;T)
Reference rs121908457(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Myotilinopathy
Variation info
Gene MYOT LOC101928005
CLNDBN Limb-girdle muscular dystrophy, type 1A Myotilinopathy
Reversed 0
HGVS NC_000005.9:g.137206504C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006191.4, RCV000054443.2,