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rs104894128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 2 Nemaline Myopathy 4
(C;C) 4 Nemaline Myopathy 4
ReferenceGRCh38 38.1/141
Chromosome9
Position35685486
GeneTPM2
is asnp
is mentioned by
dbSNPrs104894128
ebirs104894128
HLIrs104894128
Exacrs104894128
Varsomers104894128
Maprs104894128
PheGenIrs104894128
hapmaprs104894128
1000 genomesrs104894128
hgdprs104894128
ensemblrs104894128
gopubmedrs104894128
geneviewrs104894128
scholarrs104894128
googlers104894128
pharmgkbrs104894128
gwascentralrs104894128
openSNPrs104894128
23andMers104894128
23andMe allrs104894128
SNP Nexus

SNPshotrs104894128
SNPdbers104894128
MSV3drs104894128
GWAS Ctlgrs104894128
Max Magnitude4
OMIM190990
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894128(C;C)
Alt rs104894128(C;C)
Reference rs104894128(A;A)
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.35685483T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013277.17, RCV000128685.1,


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