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rs397514710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514710(A;G)
Make rs397514710(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position85909137
GeneIRF8
is asnp
is mentioned by
dbSNPrs397514710
dbSNP (classic)rs397514710
ClinGenrs397514710
ebirs397514710
HLIrs397514710
Exacrs397514710
Gnomadrs397514710
Varsomers397514710
LitVarrs397514710
Maprs397514710
PheGenIrs397514710
Biobankrs397514710
1000 genomesrs397514710
hgdprs397514710
ensemblrs397514710
geneviewrs397514710
scholarrs397514710
googlers397514710
pharmgkbrs397514710
gwascentralrs397514710
openSNPrs397514710
23andMers397514710
SNPshotrs397514710
SNPdbers397514710
MSV3drs397514710
GWAS Ctlgrs397514710
Max Magnitude0
ClinVar
Risk rs397514710(G;G)
Alt rs397514710(G;G)
Reference Rs397514710(A;A)
Significance Pathogenic
Disease Immunodeficiency 32b
Variation info
Gene IRF8
CLNDBN Immunodeficiency 32b
Reversed 0
HGVS NC_000016.9:g.85942743A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000050229.6,