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rs869025224

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025224(C;C)
Make rs869025224(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position97734709
GeneZAP70
is asnp
is mentioned by
dbSNPrs869025224
dbSNP (classic)rs869025224
ClinGenrs869025224
ebirs869025224
HLIrs869025224
Exacrs869025224
Gnomadrs869025224
Varsomers869025224
LitVarrs869025224
Maprs869025224
PheGenIrs869025224
Biobankrs869025224
1000 genomesrs869025224
hgdprs869025224
ensemblrs869025224
geneviewrs869025224
scholarrs869025224
googlers869025224
pharmgkbrs869025224
gwascentralrs869025224
openSNPrs869025224
23andMers869025224
SNPshotrs869025224
SNPdbers869025224
MSV3drs869025224
GWAS Ctlgrs869025224
Max Magnitude0
ClinVar
Risk rs869025224(C;C)
Alt rs869025224(C;C)
Reference Rs869025224(G;G)
Significance Pathogenic
Disease Combined immunodeficiency Autoimmune disease
Variation info
Gene ZAP70
CLNDBN Combined immunodeficiency Autoimmune disease, multisystem, infantile-onset, 2
Reversed 0
HGVS NC_000002.11:g.98351172G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208547.1, RCV000233631.2,