rs137852677

Orientation

minus

Stabilized

minus

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

Make rs137852677(C;C)

Make rs137852677(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190975830

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs137852677
dbSNP (classic)	rs137852677
ClinGen	rs137852677
ebi	rs137852677
HLI	rs137852677
Exac	rs137852677
Gnomad	rs137852677
Varsome	rs137852677
LitVar	rs137852677
Map	rs137852677
PheGenI	rs137852677
Biobank	rs137852677
1000 genomes	rs137852677
hgdp	rs137852677
ensembl	rs137852677
geneview	rs137852677
scholar	rs137852677
google	rs137852677
pharmgkb	rs137852677
gwascentral	rs137852677
openSNP	rs137852677
23andMe	rs137852677
SNPshot	rs137852677
SNPdbe	rs137852677
MSV3d	rs137852677
GWAS Ctlg	rs137852677

Max Magnitude

0

OMIM	600555
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852677(C;C)
Alt	rs137852677(C;C)
Reference	Rs137852677(T;T)
Significance	Pathogenic
Disease	Immunodeficiency 31a
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31a
Reversed	1
HGVS	NC_000002.11:g.191840556A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009610.6,