rs748277951

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs748277951(A;G)

Make rs748277951(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

3967651

Gene

STIM1

is a	snp
is	mentioned by
dbSNP	rs748277951
dbSNP (classic)	rs748277951
ClinGen	rs748277951
ebi	rs748277951
HLI	rs748277951
Exac	rs748277951
Gnomad	rs748277951
Varsome	rs748277951
LitVar	rs748277951
Map	rs748277951
PheGenI	rs748277951
Biobank	rs748277951
1000 genomes	rs748277951
hgdp	rs748277951
ensembl	rs748277951
geneview	rs748277951
scholar	rs748277951
google	rs748277951
pharmgkb	rs748277951
gwascentral	rs748277951
openSNP	rs748277951
23andMe	rs748277951
SNPshot	rs748277951
SNPdbe	rs748277951
MSV3d	rs748277951
GWAS Ctlg	rs748277951

Max Magnitude

0

ClinVar
Risk	rs748277951(C;C) rs748277951(G;G)
Alt	rs748277951(C;C) rs748277951(G;G)
Reference	Rs748277951(A;A)
Significance	Pathogenic
Disease	Myopathy with tubular aggregates
Variation	info
Gene	STIM1
CLNDBN	Myopathy with tubular aggregates
Reversed	0
HGVS	NC_000011.9:g.3988881A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169764.4,