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rs199474719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199474719(-;-)
Make rs199474719(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position154167940
GeneTPM3
is asnp
is mentioned by
dbSNPrs199474719
ebirs199474719
HLIrs199474719
Exacrs199474719
Varsomers199474719
Maprs199474719
PheGenIrs199474719
hapmaprs199474719
1000 genomesrs199474719
hgdprs199474719
ensemblrs199474719
gopubmedrs199474719
geneviewrs199474719
scholarrs199474719
googlers199474719
pharmgkbrs199474719
gwascentralrs199474719
openSNPrs199474719
23andMers199474719
23andMe allrs199474719
SNP Nexus

SNPshotrs199474719
SNPdbers199474719
MSV3drs199474719
GWAS Ctlgrs199474719
Max Magnitude0
ClinVar
Risk rs199474719(;)
Alt rs199474719(;)
Reference rs199474719(A;A)
Significance Pathogenic
Disease Nemaline myopathy 1 not provided
Variation info
Gene TPM3
CLNDBN Nemaline myopathy 1 not provided
Reversed 1
HGVS NC_000001.10:g.154140416delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000013266.26, RCV000128707.1,


[PMID 18382475] Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.