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rs140291094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 3 unaffected carrier of Native American myopathy allele
(G;G) 5 Predicted to have Native American myopathy
ReferenceGRCh38 38.1/142
Chromosome12
Position57244322
GeneSTAC3
is asnp
is mentioned by
dbSNPrs140291094
ebirs140291094
HLIrs140291094
Exacrs140291094
Varsomers140291094
Maprs140291094
PheGenIrs140291094
hapmaprs140291094
1000 genomesrs140291094
hgdprs140291094
ensemblrs140291094
gopubmedrs140291094
geneviewrs140291094
scholarrs140291094
googlers140291094
pharmgkbrs140291094
gwascentralrs140291094
openSNPrs140291094
23andMers140291094
23andMe allrs140291094
SNP Nexus

SNPshotrs140291094
SNPdbers140291094
MSV3drs140291094
GWAS Ctlgrs140291094
Max Magnitude5
rs140291094, also known as Trp284 Ser or W284S, is a SNP in the SH3 and cysteine rich domain 3 STAC3 gene on chromosome 12.

In 2013, rs140291094 was identified as a cause of Native American myopathy, a recessive condition.[PMID 23736855OA-icon.png] The common allele is rs140291094(C); the rare mutant is rs140291094(G).

ClinVar
Risk rs140291094(G;G)
Alt rs140291094(G;G)
Reference rs140291094(C;C)
Significance Pathogenic
Disease Native American myopathy
Variation info
Gene STAC3
CLNDBN Native American myopathy
Reversed 0
HGVS NC_000012.11:g.57638105C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000074400.2,