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rs199474711

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199474711(C;T)
Make rs199474711(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154192008
GeneTPM3
is asnp
is mentioned by
dbSNPrs199474711
ebirs199474711
HLIrs199474711
Exacrs199474711
Varsomers199474711
Maprs199474711
PheGenIrs199474711
hapmaprs199474711
1000 genomesrs199474711
hgdprs199474711
ensemblrs199474711
gopubmedrs199474711
geneviewrs199474711
scholarrs199474711
googlers199474711
pharmgkbrs199474711
gwascentralrs199474711
openSNPrs199474711
23andMers199474711
23andMe allrs199474711
SNP Nexus

SNPshotrs199474711
SNPdbers199474711
MSV3drs199474711
GWAS Ctlgrs199474711
Max Magnitude0
ClinVar
Risk rs199474711(T;T)
Alt rs199474711(T;T)
Reference rs199474711(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.154164484G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000034941.1, RCV000128693.1,


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