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rs121908458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908458(C;G)
Make rs121908458(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position137870830
GeneLOC101928005, MYOT
is asnp
is mentioned by
dbSNPrs121908458
ebirs121908458
HLIrs121908458
Exacrs121908458
Varsomers121908458
Maprs121908458
PheGenIrs121908458
hapmaprs121908458
1000 genomesrs121908458
hgdprs121908458
ensemblrs121908458
gopubmedrs121908458
geneviewrs121908458
scholarrs121908458
googlers121908458
pharmgkbrs121908458
gwascentralrs121908458
openSNPrs121908458
23andMers121908458
23andMe allrs121908458
SNP Nexus

SNPshotrs121908458
SNPdbers121908458
MSV3drs121908458
GWAS Ctlgrs121908458
Max Magnitude0
OMIM604103
Desc
Variant0003
Relatedalso
OMIM604103
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908458(G,T;G,T)
Alt rs121908458(G,T;G,T)
Reference rs121908458(C;C)
Significance Pathogenic
Disease Myotilinopathy Myofibrillar myopathy
Variation info
Gene MYOT LOC101928005
CLNDBN Myotilinopathy Myofibrillar myopathy
Reversed 0
HGVS NC_000005.9:g.137206519C>G; NC_000005.9:g.137206519C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006193.5, RCV000239643.1, RCV000006194.5,