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rs121918571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918571(A;A)
Make rs121918571(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36574287
GeneRAG1
is asnp
is mentioned by
dbSNPrs121918571
dbSNP (classic)rs121918571
ClinGenrs121918571
ebirs121918571
HLIrs121918571
Exacrs121918571
Gnomadrs121918571
Varsomers121918571
LitVarrs121918571
Maprs121918571
PheGenIrs121918571
Biobankrs121918571
1000 genomesrs121918571
hgdprs121918571
ensemblrs121918571
geneviewrs121918571
scholarrs121918571
googlers121918571
pharmgkbrs121918571
gwascentralrs121918571
openSNPrs121918571
23andMers121918571
SNPshotrs121918571
SNPdbers121918571
MSV3drs121918571
GWAS Ctlgrs121918571
Max Magnitude0
OMIM179615
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121918571(A;A)
Alt rs121918571(A;A)
Reference Rs121918571(G;G)
Significance Pathogenic
Disease Histiocytic medullary reticulosis
Variation info
Gene RAG1
CLNDBN Histiocytic medullary reticulosis
Reversed 0
HGVS NC_000011.9:g.36595837G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014046.17,