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rs397514711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514711(A;G)
Make rs397514711(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position85909053
GeneIRF8
is asnp
is mentioned by
dbSNPrs397514711
ebirs397514711
HLIrs397514711
Exacrs397514711
Varsomers397514711
Maprs397514711
PheGenIrs397514711
hapmaprs397514711
1000 genomesrs397514711
hgdprs397514711
ensemblrs397514711
gopubmedrs397514711
geneviewrs397514711
scholarrs397514711
googlers397514711
pharmgkbrs397514711
gwascentralrs397514711
openSNPrs397514711
23andMers397514711
23andMe allrs397514711
SNP Nexus

SNPshotrs397514711
SNPdbers397514711
MSV3drs397514711
GWAS Ctlgrs397514711
Max Magnitude0
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
CLNACC RCV000050230.3,