rs1057519505

Orientation

plus

Stabilized

plus

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

Make rs1057519505(C;T)

Make rs1057519505(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

4083300

Gene

STIM1

is a	snp
is	mentioned by
dbSNP	rs1057519505
dbSNP (classic)	rs1057519505
ClinGen	rs1057519505
ebi	rs1057519505
HLI	rs1057519505
Exac	rs1057519505
Gnomad	rs1057519505
Varsome	rs1057519505
LitVar	rs1057519505
Map	rs1057519505
PheGenI	rs1057519505
Biobank	rs1057519505
1000 genomes	rs1057519505
hgdp	rs1057519505
ensembl	rs1057519505
geneview	rs1057519505
scholar	rs1057519505
google	rs1057519505
pharmgkb	rs1057519505
gwascentral	rs1057519505
openSNP	rs1057519505
23andMe	rs1057519505
SNPshot	rs1057519505
SNPdbe	rs1057519505
MSV3d	rs1057519505
GWAS Ctlg	rs1057519505

Max Magnitude

0

ClinVar
Risk	rs1057519505(T;T)
Alt	rs1057519505(T;T)
Reference	Rs1057519505(C;C)
Significance	Pathogenic
Disease	Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Variation	info
Gene	STIM1
CLNDBN	Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Reversed	0
HGVS	NC_000011.9:g.4104530C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416561.1,