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rs886044692

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome9
Position116698251
GeneASTN2, TRIM32
is asnp
is mentioned by
dbSNPrs886044692
dbSNP (classic)rs886044692
ClinGenrs886044692
ebirs886044692
HLIrs886044692
Exacrs886044692
Gnomadrs886044692
Varsomers886044692
LitVarrs886044692
Maprs886044692
PheGenIrs886044692
Biobankrs886044692
1000 genomesrs886044692
hgdprs886044692
ensemblrs886044692
geneviewrs886044692
scholarrs886044692
googlers886044692
pharmgkbrs886044692
gwascentralrs886044692
openSNPrs886044692
23andMers886044692
23andMe allrs886044692
SNPshotrs886044692
SNPdbers886044692
MSV3drs886044692
GWAS Ctlgrs886044692
Max Magnitude0
ClinVar
Risk rs886044692(A;A)
Alt rs886044692(A;A)
Reference Rs886044692(T;T)
Significance Pathogenic
Disease Sarcotubular myopathy
Variation info
Gene TRIM32 ASTN2
CLNDBN Sarcotubular myopathy
Reversed 0
HGVS NC_000009.11:g.119460530T>A
CLNSRC
CLNACC RCV000354711.1,