rs140291094

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

57244322

Gene

STAC3

is a	snp
is	mentioned by
dbSNP	rs140291094
dbSNP (classic)	rs140291094
ClinGen	rs140291094
ebi	rs140291094
HLI	rs140291094
Exac	rs140291094
Gnomad	rs140291094
Varsome	rs140291094
LitVar	rs140291094
Map	rs140291094
PheGenI	rs140291094
Biobank	rs140291094
1000 genomes	rs140291094
hgdp	rs140291094
ensembl	rs140291094
geneview	rs140291094
scholar	rs140291094
google	rs140291094
pharmgkb	rs140291094
gwascentral	rs140291094
openSNP	rs140291094
23andMe	rs140291094
SNPshot	rs140291094
SNPdbe	rs140291094
MSV3d	rs140291094
GWAS Ctlg	rs140291094

Max Magnitude

5

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 23736855] 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 UniProtKB (protein)
CLNACC	RCV000074400.2,