rs387906758

Orientation

minus

Stabilized

minus

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

Make rs387906758(C;T)

Make rs387906758(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190995185

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs387906758
dbSNP (classic)	rs387906758
ClinGen	rs387906758
ebi	rs387906758
HLI	rs387906758
Exac	rs387906758
Gnomad	rs387906758
Varsome	rs387906758
LitVar	rs387906758
Map	rs387906758
PheGenI	rs387906758
Biobank	rs387906758
1000 genomes	rs387906758
hgdp	rs387906758
ensembl	rs387906758
geneview	rs387906758
scholar	rs387906758
google	rs387906758
pharmgkb	rs387906758
gwascentral	rs387906758
openSNP	rs387906758
23andMe	rs387906758
SNPshot	rs387906758
SNPdbe	rs387906758
MSV3d	rs387906758
GWAS Ctlg	rs387906758

Max Magnitude

0

ClinVar
Risk	rs387906758(G;G) rs387906758(T;T)
Alt	rs387906758(G;G) rs387906758(T;T)
Reference	Rs387906758(C;C)
Significance	Pathogenic
Disease	Immunodeficiency 31C
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31C
Reversed	1
HGVS	NC_000002.11:g.191859911G>A; NC_000002.11:g.191859911G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022986.4, RCV000148020.4,