rs387906763

Orientation

minus

Stabilized

minus

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

Make rs387906763(C;C)

Make rs387906763(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190999647

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs387906763
dbSNP (classic)	rs387906763
ClinGen	rs387906763
ebi	rs387906763
HLI	rs387906763
Exac	rs387906763
Gnomad	rs387906763
Varsome	rs387906763
LitVar	rs387906763
Map	rs387906763
PheGenI	rs387906763
Biobank	rs387906763
1000 genomes	rs387906763
hgdp	rs387906763
ensembl	rs387906763
geneview	rs387906763
scholar	rs387906763
google	rs387906763
pharmgkb	rs387906763
gwascentral	rs387906763
openSNP	rs387906763
23andMe	rs387906763
SNPshot	rs387906763
SNPdbe	rs387906763
MSV3d	rs387906763
GWAS Ctlg	rs387906763

Max Magnitude

0

ClinVar
Risk	rs387906763(C;C)
Alt	rs387906763(C;C)
Reference	Rs387906763(T;T)
Significance	Pathogenic
Disease	Immunodeficiency 31C
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31C
Reversed	1
HGVS	NC_000002.11:g.191864373A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022991.4,