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rs121917894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917894(A;A)
Make rs121917894(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36593483
GeneRAG2
is asnp
is mentioned by
dbSNPrs121917894
ebirs121917894
HLIrs121917894
Exacrs121917894
Varsomers121917894
Maprs121917894
PheGenIrs121917894
hapmaprs121917894
1000 genomesrs121917894
hgdprs121917894
ensemblrs121917894
gopubmedrs121917894
geneviewrs121917894
scholarrs121917894
googlers121917894
pharmgkbrs121917894
gwascentralrs121917894
openSNPrs121917894
23andMers121917894
23andMe allrs121917894
SNP Nexus

SNPshotrs121917894
SNPdbers121917894
MSV3drs121917894
GWAS Ctlgrs121917894
Max Magnitude0
ClinVar
Risk rs121917894(A,T;A,T)
Alt rs121917894(A,T;A,T)
Reference rs121917894(G;G)
Significance Pathogenic
Disease Severe combined immunodeficiency Histiocytic medullary reticulosis
Variation info
Gene RAG2 C11orf74
CLNDBN Severe combined immunodeficiency, b cell-negative Histiocytic medullary reticulosis
Reversed 1
HGVS NC_000011.9:g.36615033C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014010.23, RCV000014011.24,