rs387906761

Orientation

minus

Stabilized

minus

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

Make rs387906761(A;T)

Make rs387906761(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

190995148

Gene

STAT1

is a	snp
is	mentioned by
dbSNP	rs387906761
dbSNP (classic)	rs387906761
ClinGen	rs387906761
ebi	rs387906761
HLI	rs387906761
Exac	rs387906761
Gnomad	rs387906761
Varsome	rs387906761
LitVar	rs387906761
Map	rs387906761
PheGenI	rs387906761
Biobank	rs387906761
1000 genomes	rs387906761
hgdp	rs387906761
ensembl	rs387906761
geneview	rs387906761
scholar	rs387906761
google	rs387906761
pharmgkb	rs387906761
gwascentral	rs387906761
openSNP	rs387906761
23andMe	rs387906761
SNPshot	rs387906761
SNPdbe	rs387906761
MSV3d	rs387906761
GWAS Ctlg	rs387906761

Max Magnitude

0

ClinVar
Risk	rs387906761(T;T)
Alt	rs387906761(T;T)
Reference	Rs387906761(A;A)
Significance	Pathogenic
Disease	Immunodeficiency 31C
Variation	info
Gene	STAT1
CLNDBN	Immunodeficiency 31C
Reversed	1
HGVS	NC_000002.11:g.191859874T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022989.6,