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rs199476147

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
Make rs199476147(-;-)
Make rs199476147(-;AAG)
ReferenceGRCh38 38.1/141
Chromosome9
Position35689239
GeneTPM2
is asnp
is mentioned by
dbSNPrs199476147
ebirs199476147
HLIrs199476147
Exacrs199476147
Varsomers199476147
Maprs199476147
PheGenIrs199476147
hapmaprs199476147
1000 genomesrs199476147
hgdprs199476147
ensemblrs199476147
gopubmedrs199476147
geneviewrs199476147
scholarrs199476147
googlers199476147
pharmgkbrs199476147
gwascentralrs199476147
openSNPrs199476147
23andMers199476147
23andMe allrs199476147
SNP Nexus

SNPshotrs199476147
SNPdbers199476147
MSV3drs199476147
GWAS Ctlgrs199476147
Max Magnitude0
ClinVar
Risk rs199476147(;)
Alt rs199476147(;)
Reference rs199476147(AAG;AAG)
Significance Pathogenic
Disease Cap myopathy 2 not provided
Variation info
Gene TPM2
CLNDBN Cap myopathy 2 not provided
Reversed 1
HGVS NC_000009.11:g.35689236_35689238delCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000013282.24, RCV000128673.1,


[PMID 19047562] New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.