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rs200296680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200296680(C;T)
Make rs200296680(T;T)
ReferenceGRCh38 38.1/142
Chromosome8
Position42316223
GeneIKBKB
is asnp
is mentioned by
dbSNPrs200296680
dbSNP (classic)rs200296680
ClinGenrs200296680
ebirs200296680
HLIrs200296680
Exacrs200296680
Gnomadrs200296680
Varsomers200296680
LitVarrs200296680
Maprs200296680
PheGenIrs200296680
Biobankrs200296680
1000 genomesrs200296680
hgdprs200296680
ensemblrs200296680
geneviewrs200296680
scholarrs200296680
googlers200296680
pharmgkbrs200296680
gwascentralrs200296680
openSNPrs200296680
23andMers200296680
SNPshotrs200296680
SNPdbers200296680
MSV3drs200296680
GWAS Ctlgrs200296680
Max Magnitude0
ClinVar
Risk rs200296680(T;T)
Alt rs200296680(T;T)
Reference Rs200296680(C;C)
Significance Pathogenic
Disease Immunodeficiency 15
Variation info
Gene IKBKB
CLNDBN Immunodeficiency 15
Reversed 0
HGVS NC_000008.10:g.42173741C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144958.4,