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rs121434447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434447(A;A)
Make rs121434447(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position116698923
GeneASTN2, TRIM32
is asnp
is mentioned by
dbSNPrs121434447
ebirs121434447
HLIrs121434447
Exacrs121434447
Varsomers121434447
Maprs121434447
PheGenIrs121434447
hapmaprs121434447
1000 genomesrs121434447
hgdprs121434447
ensemblrs121434447
gopubmedrs121434447
geneviewrs121434447
scholarrs121434447
googlers121434447
pharmgkbrs121434447
gwascentralrs121434447
openSNPrs121434447
23andMers121434447
23andMe allrs121434447
SNP Nexus

SNPshotrs121434447
SNPdbers121434447
MSV3drs121434447
GWAS Ctlgrs121434447
Max Magnitude0
OMIM602290
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434447(A;A)
Alt rs121434447(A;A)
Reference rs121434447(G;G)
Significance Pathogenic
Disease Sarcotubular myopathy
Variation info
Gene TRIM32 ASTN2
CLNDBN Sarcotubular myopathy
Reversed 0
HGVS NC_000009.11:g.119461202G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007778.3,