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rs121918570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918570(C;T)
Make rs121918570(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36576227
GeneRAG1
is asnp
is mentioned by
dbSNPrs121918570
dbSNP (classic)rs121918570
ClinGenrs121918570
ebirs121918570
HLIrs121918570
Exacrs121918570
Gnomadrs121918570
Varsomers121918570
LitVarrs121918570
Maprs121918570
PheGenIrs121918570
Biobankrs121918570
1000 genomesrs121918570
hgdprs121918570
ensemblrs121918570
geneviewrs121918570
scholarrs121918570
googlers121918570
pharmgkbrs121918570
gwascentralrs121918570
openSNPrs121918570
23andMers121918570
SNPshotrs121918570
SNPdbers121918570
MSV3drs121918570
GWAS Ctlgrs121918570
Max Magnitude0
OMIM179615
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121918570(T;T)
Alt rs121918570(T;T)
Reference Rs121918570(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.36597777C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014045.25,