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rs121918569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918569(A;A)
Make rs121918569(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36575637
GeneRAG1
is asnp
is mentioned by
dbSNPrs121918569
dbSNP (classic)rs121918569
ClinGenrs121918569
ebirs121918569
HLIrs121918569
Exacrs121918569
Gnomadrs121918569
Varsomers121918569
LitVarrs121918569
Maprs121918569
PheGenIrs121918569
Biobankrs121918569
1000 genomesrs121918569
hgdprs121918569
ensemblrs121918569
geneviewrs121918569
scholarrs121918569
googlers121918569
pharmgkbrs121918569
gwascentralrs121918569
openSNPrs121918569
23andMers121918569
SNPshotrs121918569
SNPdbers121918569
MSV3drs121918569
GWAS Ctlgrs121918569
Max Magnitude0
OMIM179615
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121918569(A;A)
Alt rs121918569(A;A)
Reference Rs121918569(G;G)
Significance Pathogenic
Disease Combined cellular and humoral immune defects with granulomas not provided
Variation info
Gene RAG1
CLNDBN Combined cellular and humoral immune defects with granulomas not provided
Reversed 0
HGVS NC_000011.9:g.36597187G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014044.24, RCV000479659.1,