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rs869312883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312883(A;G)
Make rs869312883(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position50387384
GeneIKZF1
is asnp
is mentioned by
dbSNPrs869312883
dbSNP (classic)rs869312883
ClinGenrs869312883
ebirs869312883
HLIrs869312883
Exacrs869312883
Gnomadrs869312883
Varsomers869312883
LitVarrs869312883
Maprs869312883
PheGenIrs869312883
Biobankrs869312883
1000 genomesrs869312883
hgdprs869312883
ensemblrs869312883
geneviewrs869312883
scholarrs869312883
googlers869312883
pharmgkbrs869312883
gwascentralrs869312883
openSNPrs869312883
23andMers869312883
SNPshotrs869312883
SNPdbers869312883
MSV3drs869312883
GWAS Ctlgrs869312883
Max Magnitude0
ClinVar
Risk rs869312883(G;G)
Alt rs869312883(G;G)
Reference Rs869312883(A;A)
Significance Pathogenic
Disease Immunodeficiency
Variation info
Gene IKZF1
CLNDBN Immunodeficiency, common variable, 13
Reversed 0
HGVS NC_000007.13:g.50455082A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000210348.2,