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rs104894298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894298(C;T)
Make rs104894298(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36574823
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894298
dbSNP (classic)rs104894298
ClinGenrs104894298
ebirs104894298
HLIrs104894298
Exacrs104894298
Gnomadrs104894298
Varsomers104894298
LitVarrs104894298
Maprs104894298
PheGenIrs104894298
Biobankrs104894298
1000 genomesrs104894298
hgdprs104894298
ensemblrs104894298
geneviewrs104894298
scholarrs104894298
googlers104894298
pharmgkbrs104894298
gwascentralrs104894298
openSNPrs104894298
23andMers104894298
SNPshotrs104894298
SNPdbers104894298
MSV3drs104894298
GWAS Ctlgrs104894298
Max Magnitude0
OMIM179615
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104894298(T;T)
Alt rs104894298(T;T)
Reference Rs104894298(C;C)
Significance Pathogenic
Disease Combined cellular and humoral immune defects with granulomas
Variation info
Gene RAG1
CLNDBN Combined cellular and humoral immune defects with granulomas
Reversed 0
HGVS NC_000011.9:g.36596373C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014043.25,