rs387906767

Orientation

minus

Stabilized

minus

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

Make rs387906767(C;C)

Make rs387906767(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190999674

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs387906767
dbSNP (classic)	rs387906767
ClinGen	rs387906767
ebi	rs387906767
HLI	rs387906767
Exac	rs387906767
Gnomad	rs387906767
Varsome	rs387906767
LitVar	rs387906767
Map	rs387906767
PheGenI	rs387906767
Biobank	rs387906767
1000 genomes	rs387906767
hgdp	rs387906767
ensembl	rs387906767
geneview	rs387906767
scholar	rs387906767
google	rs387906767
pharmgkb	rs387906767
gwascentral	rs387906767
openSNP	rs387906767
23andMe	rs387906767
SNPshot	rs387906767
SNPdbe	rs387906767
MSV3d	rs387906767
GWAS Ctlg	rs387906767

Max Magnitude

0

ClinVar
Risk	rs387906767(C;C)
Alt	rs387906767(C;C)
Reference	Rs387906767(G;G)
Significance	Pathogenic
Disease	Immunodeficiency 31C
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31C
Reversed	1
HGVS	NC_000002.11:g.191864400C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022995.4,