rs137852679

Orientation

minus

Stabilized

minus

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

Make rs137852679(G;T)

Make rs137852679(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190983699

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs137852679
dbSNP (classic)	rs137852679
ClinGen	rs137852679
ebi	rs137852679
HLI	rs137852679
Exac	rs137852679
Gnomad	rs137852679
Varsome	rs137852679
LitVar	rs137852679
Map	rs137852679
PheGenI	rs137852679
Biobank	rs137852679
1000 genomes	rs137852679
hgdp	rs137852679
ensembl	rs137852679
geneview	rs137852679
scholar	rs137852679
google	rs137852679
pharmgkb	rs137852679
gwascentral	rs137852679
openSNP	rs137852679
23andMe	rs137852679
SNPshot	rs137852679
SNPdbe	rs137852679
MSV3d	rs137852679
GWAS Ctlg	rs137852679

Max Magnitude

0

OMIM	600555
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852679(T;T)
Alt	rs137852679(T;T)
Reference	Rs137852679(G;G)
Significance	Pathogenic
Disease	Immunodeficiency 31a
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31a
Reversed	1
HGVS	NC_000002.11:g.191848425C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009613.6,