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rs104894129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Nemaline Myopathy 4
(A;G) 2 Nemaline Myopathy 4
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position35685672
GeneTPM2
is asnp
is mentioned by
dbSNPrs104894129
ebirs104894129
HLIrs104894129
Exacrs104894129
Varsomers104894129
Maprs104894129
PheGenIrs104894129
hapmaprs104894129
1000 genomesrs104894129
hgdprs104894129
ensemblrs104894129
gopubmedrs104894129
geneviewrs104894129
scholarrs104894129
googlers104894129
pharmgkbrs104894129
gwascentralrs104894129
openSNPrs104894129
23andMers104894129
23andMe allrs104894129
SNP Nexus

SNPshotrs104894129
SNPdbers104894129
MSV3drs104894129
GWAS Ctlgrs104894129
Max Magnitude4
OMIM190990
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894129(A;A)
Alt rs104894129(A;A)
Reference rs104894129(G;G)
Significance Pathogenic
Disease Nemaline myopathy 4 not provided
Variation info
Gene TPM2
CLNDBN Nemaline myopathy 4 not provided
Reversed 1
HGVS NC_000009.11:g.35685669C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013278.18, RCV000128681.1,


[PMID 11738357] Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. [PMID 18789687] TPM2 mutation.