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rs193922463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922463(A;A)
Make rs193922463(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position36576208
GeneRAG1
is asnp
is mentioned by
dbSNPrs193922463
ebirs193922463
HLIrs193922463
Exacrs193922463
Varsomers193922463
Maprs193922463
PheGenIrs193922463
hapmaprs193922463
1000 genomesrs193922463
hgdprs193922463
ensemblrs193922463
gopubmedrs193922463
geneviewrs193922463
scholarrs193922463
googlers193922463
pharmgkbrs193922463
gwascentralrs193922463
openSNPrs193922463
23andMers193922463
23andMe allrs193922463
SNP Nexus

SNPshotrs193922463
SNPdbers193922463
MSV3drs193922463
GWAS Ctlgrs193922463
Max Magnitude0
ClinVar
Risk rs193922463(A;A)
Alt rs193922463(A;A)
Reference rs193922463(C;C)
Significance Probable-Pathogenic
Disease Histiocytic medullary reticulosis
Variation info
Gene RAG1
CLNDBN Histiocytic medullary reticulosis
Reversed 0
HGVS NC_000011.9:g.36597758C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030392.1,


[PMID 15908971] Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.