rs387906764

Orientation

minus

Stabilized

minus

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

Make rs387906764(A;G)

Make rs387906764(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190999673

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs387906764
dbSNP (classic)	rs387906764
ClinGen	rs387906764
ebi	rs387906764
HLI	rs387906764
Exac	rs387906764
Gnomad	rs387906764
Varsome	rs387906764
LitVar	rs387906764
Map	rs387906764
PheGenI	rs387906764
Biobank	rs387906764
1000 genomes	rs387906764
hgdp	rs387906764
ensembl	rs387906764
geneview	rs387906764
scholar	rs387906764
google	rs387906764
pharmgkb	rs387906764
gwascentral	rs387906764
openSNP	rs387906764
23andMe	rs387906764
SNPshot	rs387906764
SNPdbe	rs387906764
MSV3d	rs387906764
GWAS Ctlg	rs387906764

Max Magnitude

0

ClinVar
Risk	rs387906764(G;G)
Alt	rs387906764(G;G)
Reference	Rs387906764(A;A)
Significance	Pathogenic
Disease	Immunodeficiency 31C
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31C
Reversed	1
HGVS	NC_000002.11:g.191864399T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022992.7,