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rs199474718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199474718(A;G)
Make rs199474718(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position154170442
GeneTPM3
is asnp
is mentioned by
dbSNPrs199474718
ebirs199474718
HLIrs199474718
Exacrs199474718
Varsomers199474718
Maprs199474718
PheGenIrs199474718
hapmaprs199474718
1000 genomesrs199474718
hgdprs199474718
ensemblrs199474718
gopubmedrs199474718
geneviewrs199474718
scholarrs199474718
googlers199474718
pharmgkbrs199474718
gwascentralrs199474718
openSNPrs199474718
23andMers199474718
23andMe allrs199474718
SNP Nexus

SNPshotrs199474718
SNPdbers199474718
MSV3drs199474718
GWAS Ctlgrs199474718
Max Magnitude0
ClinVar
Risk rs199474718(G;G)
Alt rs199474718(G;G)
Reference rs199474718(A;A)
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.154142918T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034945.1, RCV000128705.1,


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