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rs199474713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474713(C;C)
Make rs199474713(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position154176220
GeneTPM3
is asnp
is mentioned by
dbSNPrs199474713
ebirs199474713
HLIrs199474713
Exacrs199474713
Varsomers199474713
Maprs199474713
PheGenIrs199474713
hapmaprs199474713
1000 genomesrs199474713
hgdprs199474713
ensemblrs199474713
gopubmedrs199474713
geneviewrs199474713
scholarrs199474713
googlers199474713
pharmgkbrs199474713
gwascentralrs199474713
openSNPrs199474713
23andMers199474713
23andMe allrs199474713
SNP Nexus

SNPshotrs199474713
SNPdbers199474713
MSV3drs199474713
GWAS Ctlgrs199474713
Max Magnitude0
ClinVar
Risk rs199474713(C;C)
Alt rs199474713(C;C)
Reference rs199474713(G;G)
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.154148696C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000034942.1, RCV000128696.1,


[PMID 19953533OA-icon.png] Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.