rs387906768

Orientation

minus

Stabilized

minus

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

Make rs387906768(A;C)

Make rs387906768(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190995193

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs387906768
dbSNP (classic)	rs387906768
ClinGen	rs387906768
ebi	rs387906768
HLI	rs387906768
Exac	rs387906768
Gnomad	rs387906768
Varsome	rs387906768
LitVar	rs387906768
Map	rs387906768
PheGenI	rs387906768
Biobank	rs387906768
1000 genomes	rs387906768
hgdp	rs387906768
ensembl	rs387906768
geneview	rs387906768
scholar	rs387906768
google	rs387906768
pharmgkb	rs387906768
gwascentral	rs387906768
openSNP	rs387906768
23andMe	rs387906768
SNPshot	rs387906768
SNPdbe	rs387906768
MSV3d	rs387906768
GWAS Ctlg	rs387906768

Max Magnitude

0

ClinVar
Risk	rs387906768(C;C)
Alt	rs387906768(C;C)
Reference	Rs387906768(A;A)
Significance	Pathogenic
Disease	Immunodeficiency 31C
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31C
Reversed	1
HGVS	NC_000002.11:g.191859919T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022997.4,