rs387906759

Orientation

minus

Stabilized

minus

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

Make rs387906759(C;T)

Make rs387906759(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190995205

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs387906759
dbSNP (classic)	rs387906759
ClinGen	rs387906759
ebi	rs387906759
HLI	rs387906759
Exac	rs387906759
Gnomad	rs387906759
Varsome	rs387906759
LitVar	rs387906759
Map	rs387906759
PheGenI	rs387906759
Biobank	rs387906759
1000 genomes	rs387906759
hgdp	rs387906759
ensembl	rs387906759
geneview	rs387906759
scholar	rs387906759
google	rs387906759
pharmgkb	rs387906759
gwascentral	rs387906759
openSNP	rs387906759
23andMe	rs387906759
SNPshot	rs387906759
SNPdbe	rs387906759
MSV3d	rs387906759
GWAS Ctlg	rs387906759

Max Magnitude

0

ClinVar
Risk	rs387906759(T;T)
Alt	rs387906759(T;T)
Reference	Rs387906759(C;C)
Significance	Pathogenic
Disease	Immunodeficiency 31C
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31C
Reversed	1
HGVS	NC_000002.11:g.191859931G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022987.5,