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rs199474717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199474717(A;A)
Make rs199474717(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position154170454
GeneTPM3
is asnp
is mentioned by
dbSNPrs199474717
dbSNP (old)rs199474717
ClinGenrs199474717
ebirs199474717
HLIrs199474717
Exacrs199474717
Gnomadrs199474717
Varsomers199474717
Maprs199474717
PheGenIrs199474717
Biobankrs199474717
1000 genomesrs199474717
hgdprs199474717
ensemblrs199474717
gopubmedrs199474717
geneviewrs199474717
scholarrs199474717
googlers199474717
pharmgkbrs199474717
gwascentralrs199474717
openSNPrs199474717
23andMers199474717
23andMe allrs199474717
SNP Nexus

SNPshotrs199474717
SNPdbers199474717
MSV3drs199474717
GWAS Ctlgrs199474717
Max Magnitude0
ClinVar
Risk rs199474717(A;A)
Alt rs199474717(A;A)
Reference Rs199474717(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.154142930C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000034944.1, RCV000128704.1,


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