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rs199474715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199474715(A;G)
Make rs199474715(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position154172969
GeneTPM3
is asnp
is mentioned by
dbSNPrs199474715
ebirs199474715
HLIrs199474715
Exacrs199474715
Varsomers199474715
Maprs199474715
PheGenIrs199474715
hapmaprs199474715
1000 genomesrs199474715
hgdprs199474715
ensemblrs199474715
gopubmedrs199474715
geneviewrs199474715
scholarrs199474715
googlers199474715
pharmgkbrs199474715
gwascentralrs199474715
openSNPrs199474715
23andMers199474715
23andMe allrs199474715
SNP Nexus

SNPshotrs199474715
SNPdbers199474715
MSV3drs199474715
GWAS Ctlgrs199474715
Max Magnitude0
ClinVar
Risk rs199474715(G;G)
Alt rs199474715(G;G)
Reference rs199474715(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.154145445T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034943.1, RCV000128702.1,


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