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rs869312885

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312885(A;A)
Make rs869312885(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position50382669
GeneIKZF1
is asnp
is mentioned by
dbSNPrs869312885
dbSNP (classic)rs869312885
ClinGenrs869312885
ebirs869312885
HLIrs869312885
Exacrs869312885
Gnomadrs869312885
Varsomers869312885
LitVarrs869312885
Maprs869312885
PheGenIrs869312885
Biobankrs869312885
1000 genomesrs869312885
hgdprs869312885
ensemblrs869312885
geneviewrs869312885
scholarrs869312885
googlers869312885
pharmgkbrs869312885
gwascentralrs869312885
openSNPrs869312885
23andMers869312885
SNPshotrs869312885
SNPdbers869312885
MSV3drs869312885
GWAS Ctlgrs869312885
Max Magnitude0
ClinVar
Risk rs869312885(A;A)
Alt rs869312885(A;A)
Reference Rs869312885(G;G)
Significance Pathogenic
Disease Immunodeficiency
Variation info
Gene IKZF1
CLNDBN Immunodeficiency, common variable, 13
Reversed 0
HGVS NC_000007.13:g.50450367G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210350.2,