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rs121964853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Nemaline Myopathy 1
(A;C) 2 Nemaline Myopathy 1
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position154176194
GeneTPM3
is asnp
is mentioned by
dbSNPrs121964853
ebirs121964853
HLIrs121964853
Exacrs121964853
Varsomers121964853
Maprs121964853
PheGenIrs121964853
hapmaprs121964853
1000 genomesrs121964853
hgdprs121964853
ensemblrs121964853
gopubmedrs121964853
geneviewrs121964853
scholarrs121964853
googlers121964853
pharmgkbrs121964853
gwascentralrs121964853
openSNPrs121964853
23andMers121964853
23andMe allrs121964853
SNP Nexus

SNPshotrs121964853
SNPdbers121964853
MSV3drs121964853
GWAS Ctlgrs121964853
Max Magnitude4
OMIM191030
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121964853(A;A)
Alt rs121964853(A;A)
Reference rs121964853(C;C)
Significance Pathogenic
Disease Congenital myopathy with fiber type disproportion not provided
Variation info
Gene TPM3
CLNDBN Congenital myopathy with fiber type disproportion not provided
Reversed 1
HGVS NC_000001.10:g.154148670G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013267.23, RCV000128697.1,


[PMID 18300303] Mutations in TPM3 are a common cause of congenital fiber type disproportion.