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rs869312884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312884(A;G)
Make rs869312884(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position50382618
GeneIKZF1
is asnp
is mentioned by
dbSNPrs869312884
dbSNP (classic)rs869312884
ClinGenrs869312884
ebirs869312884
HLIrs869312884
Exacrs869312884
Gnomadrs869312884
Varsomers869312884
LitVarrs869312884
Maprs869312884
PheGenIrs869312884
Biobankrs869312884
1000 genomesrs869312884
hgdprs869312884
ensemblrs869312884
geneviewrs869312884
scholarrs869312884
googlers869312884
pharmgkbrs869312884
gwascentralrs869312884
openSNPrs869312884
23andMers869312884
SNPshotrs869312884
SNPdbers869312884
MSV3drs869312884
GWAS Ctlgrs869312884
Max Magnitude0
ClinVar
Risk rs869312884(G;G)
Alt rs869312884(G;G)
Reference Rs869312884(A;A)
Significance Pathogenic
Disease Immunodeficiency
Variation info
Gene IKZF1
CLNDBN Immunodeficiency, common variable, 13
Reversed 0
HGVS NC_000007.13:g.50450316A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210347.2,