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rs111033570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033570(A;A)
Make rs111033570(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position116699201
GeneASTN2, TRIM32
is asnp
is mentioned by
dbSNPrs111033570
ebirs111033570
HLIrs111033570
Exacrs111033570
Varsomers111033570
Maprs111033570
PheGenIrs111033570
hapmaprs111033570
1000 genomesrs111033570
hgdprs111033570
ensemblrs111033570
gopubmedrs111033570
geneviewrs111033570
scholarrs111033570
googlers111033570
pharmgkbrs111033570
gwascentralrs111033570
openSNPrs111033570
23andMers111033570
23andMe allrs111033570
SNP Nexus

SNPshotrs111033570
SNPdbers111033570
MSV3drs111033570
GWAS Ctlgrs111033570
Max Magnitude0
OMIM602290
Desc
Variant0001
Relatedalso
ClinVar
Risk rs111033570(A;A)
Alt rs111033570(A;A)
Reference rs111033570(G;G)
Significance Pathogenic
Disease Sarcotubular myopathy
Variation info
Gene TRIM32 ASTN2
CLNDBN Sarcotubular myopathy
Reversed 0
HGVS NC_000009.11:g.119461480G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007775.2,