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rs121913649

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913649(A;T)
Make rs121913649(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23413847
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913649
ebirs121913649
HLIrs121913649
Exacrs121913649
Varsomers121913649
Maprs121913649
PheGenIrs121913649
hapmaprs121913649
1000 genomesrs121913649
hgdprs121913649
ensemblrs121913649
gopubmedrs121913649
geneviewrs121913649
scholarrs121913649
googlers121913649
pharmgkbrs121913649
gwascentralrs121913649
openSNPrs121913649
23andMers121913649
23andMe allrs121913649
SNP Nexus

SNPshotrs121913649
SNPdbers121913649
MSV3drs121913649
GWAS Ctlgrs121913649
Max Magnitude0
OMIM160760
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121913649(T;T)
Alt rs121913649(T;T)
Reference rs121913649(A;A)
Significance Pathogenic
Disease Myosin storage myopathy
Variation info
Gene MYH7 MHRT
CLNDBN Myosin storage myopathy
Reversed 1
HGVS NC_000014.8:g.23883056T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015174.26,