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rs137853307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853307(C;G)
Make rs137853307(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position35684765
GeneTPM2
is asnp
is mentioned by
dbSNPrs137853307
ebirs137853307
HLIrs137853307
Exacrs137853307
Varsomers137853307
Maprs137853307
PheGenIrs137853307
hapmaprs137853307
1000 genomesrs137853307
hgdprs137853307
ensemblrs137853307
gopubmedrs137853307
geneviewrs137853307
scholarrs137853307
googlers137853307
pharmgkbrs137853307
gwascentralrs137853307
openSNPrs137853307
23andMers137853307
23andMe allrs137853307
SNP Nexus

SNPshotrs137853307
SNPdbers137853307
MSV3drs137853307
GWAS Ctlgrs137853307
Max Magnitude0
Nemaline myopathy; NEM4

OMIM 190990.0008

OMIM190990
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853307(G;G)
Alt rs137853307(G;G)
Reference rs137853307(C;C)
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.35684762G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013283.18, RCV000128687.1,


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