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rs121964851

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 4 Nemaline Myopathy 1
(-;TAA) 2 Nemaline Myopathy 1
(AAT;AAT) 0 common in clinvar
(TAA;TAA) 0
ReferenceGRCh38 38.1/141
Chromosome1
Position154167937
GeneTPM3
is asnp
is mentioned by
dbSNPrs121964851
ebirs121964851
HLIrs121964851
Exacrs121964851
Varsomers121964851
Maprs121964851
PheGenIrs121964851
hapmaprs121964851
1000 genomesrs121964851
hgdprs121964851
ensemblrs121964851
gopubmedrs121964851
geneviewrs121964851
scholarrs121964851
googlers121964851
pharmgkbrs121964851
gwascentralrs121964851
openSNPrs121964851
23andMers121964851
23andMe allrs121964851
SNP Nexus

SNPshotrs121964851
SNPdbers121964851
MSV3drs121964851
GWAS Ctlgrs121964851
Max Magnitude4
OMIM191030
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964851(;)
Alt rs121964851(;)
Reference rs121964851(AAT;AAT)
Significance Untested
Disease Nemaline myopathy 1
Variation info
Gene TPM3
CLNDBN Nemaline myopathy 1
Reversed 1
HGVS NC_000001.10:g.154140413_154140415delTTA
CLNSRC OMIM Allelic Variant
CLNACC SCV000033507.1, SCV000033507.1,