rs397514711

Orientation

plus

Stabilized

plus

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

Make rs397514711(A;G)

Make rs397514711(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

85909053

Gene

IRF8

is a	snp
is	mentioned by
dbSNP	rs397514711
dbSNP (classic)	rs397514711
ClinGen	rs397514711
ebi	rs397514711
HLI	rs397514711
Exac	rs397514711
Gnomad	rs397514711
Varsome	rs397514711
LitVar	rs397514711
Map	rs397514711
PheGenI	rs397514711
Biobank	rs397514711
1000 genomes	rs397514711
hgdp	rs397514711
ensembl	rs397514711
geneview	rs397514711
scholar	rs397514711
google	rs397514711
pharmgkb	rs397514711
gwascentral	rs397514711
openSNP	rs397514711
23andMe	rs397514711
SNPshot	rs397514711
SNPdbe	rs397514711
MSV3d	rs397514711
GWAS Ctlg	rs397514711

Max Magnitude

0

ClinVar
Risk	rs397514711(G;G)
Alt	rs397514711(G;G)
Reference	Rs397514711(A;A)
Significance	Pathogenic
Disease	Immunodeficiency 32a
Variation	info
Gene	IRF8
CLNDBN	Immunodeficiency 32a
Reversed	0
HGVS	NC_000016.9:g.85942659A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000050230.3,