rs397514675

Orientation

plus

Stabilized

plus

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

Make rs397514675(A;G)

Make rs397514675(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

3967663

Gene

STIM1

is a	snp
is	mentioned by
dbSNP	rs397514675
dbSNP (classic)	rs397514675
ClinGen	rs397514675
ebi	rs397514675
HLI	rs397514675
Exac	rs397514675
Gnomad	rs397514675
Varsome	rs397514675
LitVar	rs397514675
Map	rs397514675
PheGenI	rs397514675
Biobank	rs397514675
1000 genomes	rs397514675
hgdp	rs397514675
ensembl	rs397514675
geneview	rs397514675
scholar	rs397514675
google	rs397514675
pharmgkb	rs397514675
gwascentral	rs397514675
openSNP	rs397514675
23andMe	rs397514675
SNPshot	rs397514675
SNPdbe	rs397514675
MSV3d	rs397514675
GWAS Ctlg	rs397514675

Max Magnitude

0

ClinVar
Risk	rs397514675(G;G)
Alt	rs397514675(G;G)
Reference	Rs397514675(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.3988893A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034365.5,