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rs193922461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922461(G;T)
Make rs193922461(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36574870
GeneRAG1
is asnp
is mentioned by
dbSNPrs193922461
ebirs193922461
HLIrs193922461
Exacrs193922461
Varsomers193922461
Maprs193922461
PheGenIrs193922461
hapmaprs193922461
1000 genomesrs193922461
hgdprs193922461
ensemblrs193922461
gopubmedrs193922461
geneviewrs193922461
scholarrs193922461
googlers193922461
pharmgkbrs193922461
gwascentralrs193922461
openSNPrs193922461
23andMers193922461
23andMe allrs193922461
SNP Nexus

SNPshotrs193922461
SNPdbers193922461
MSV3drs193922461
GWAS Ctlgrs193922461
Max Magnitude0
ClinVar
Risk rs193922461(T;T)
Alt rs193922461(T;T)
Reference rs193922461(G;G)
Significance Other
Disease Combined cellular and humoral immune defects with granulomas
Variation info
Gene RAG1
CLNDBN Combined cellular and humoral immune defects with granulomas
Reversed 0
HGVS NC_000011.9:g.36596420G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022745.18,


[PMID 10701853] Prenatal diagnosis of RAG-deficient Omenn syndrome.


[PMID 20489056OA-icon.png] Hypomorphic Rag mutations can cause destructive midline granulomatous disease.


[PMID 21131235] Analysis of mutations and recombination activity in RAG-deficient patients.