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rs193922574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922574(C;T)
Make rs193922574(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36593952
GeneRAG2
is asnp
is mentioned by
dbSNPrs193922574
ebirs193922574
HLIrs193922574
Exacrs193922574
Varsomers193922574
Maprs193922574
PheGenIrs193922574
hapmaprs193922574
1000 genomesrs193922574
hgdprs193922574
ensemblrs193922574
gopubmedrs193922574
geneviewrs193922574
scholarrs193922574
googlers193922574
pharmgkbrs193922574
gwascentralrs193922574
openSNPrs193922574
23andMers193922574
23andMe allrs193922574
SNP Nexus

SNPshotrs193922574
SNPdbers193922574
MSV3drs193922574
GWAS Ctlgrs193922574
Max Magnitude0
ClinVar
Risk rs193922574(T;T)
Alt rs193922574(T;T)
Reference rs193922574(C;C)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene RAG2 C11orf74
CLNDBN Severe combined immunodeficiency disease
Reversed 1
HGVS NC_000011.9:g.36615502G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030398.1,


[PMID 20603253] Why newborn screening for severe combined immunodeficiency is essential: a case report.