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rs137853305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853305(C;T)
Make rs137853305(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position35685529
GeneTPM2
is asnp
is mentioned by
dbSNPrs137853305
ebirs137853305
HLIrs137853305
Exacrs137853305
Varsomers137853305
Maprs137853305
PheGenIrs137853305
hapmaprs137853305
1000 genomesrs137853305
hgdprs137853305
ensemblrs137853305
gopubmedrs137853305
geneviewrs137853305
scholarrs137853305
googlers137853305
pharmgkbrs137853305
gwascentralrs137853305
openSNPrs137853305
23andMers137853305
23andMe allrs137853305
SNP Nexus

SNPshotrs137853305
SNPdbers137853305
MSV3drs137853305
GWAS Ctlgrs137853305
Max Magnitude0
Nemaline myopathy; NEM4

OMIM 190990.0004

OMIM190990
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853305(T;T)
Alt rs137853305(T;T)
Reference rs137853305(C;C)
Significance Pathogenic
Disease Distal arthrogryposis type 2B not provided
Variation info
Gene TPM2
CLNDBN Distal arthrogryposis type 2B not provided
Reversed 1
HGVS NC_000009.11:g.35685526G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013279.24, RCV000128682.1,


[PMID 17339586] Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.