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rs121918572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918572(C;T)
Make rs121918572(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36575630
GeneRAG1
is asnp
is mentioned by
dbSNPrs121918572
ebirs121918572
HLIrs121918572
Exacrs121918572
Varsomers121918572
Maprs121918572
PheGenIrs121918572
hapmaprs121918572
1000 genomesrs121918572
hgdprs121918572
ensemblrs121918572
gopubmedrs121918572
geneviewrs121918572
scholarrs121918572
googlers121918572
pharmgkbrs121918572
gwascentralrs121918572
openSNPrs121918572
23andMers121918572
23andMe allrs121918572
SNP Nexus

SNPshotrs121918572
SNPdbers121918572
MSV3drs121918572
GWAS Ctlgrs121918572
Max Magnitude0
OMIM179615
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121918572(T;T)
Alt rs121918572(T;T)
Reference rs121918572(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene RAG1
CLNDBN Severe combined immunodeficiency, b cell-negative
Reversed 0
HGVS NC_000011.9:g.36597180C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014047.24,