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rs193922572

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922572(G;T)
Make rs193922572(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36592922
GeneRAG2
is asnp
is mentioned by
dbSNPrs193922572
ebirs193922572
HLIrs193922572
Exacrs193922572
Varsomers193922572
Maprs193922572
PheGenIrs193922572
hapmaprs193922572
1000 genomesrs193922572
hgdprs193922572
ensemblrs193922572
gopubmedrs193922572
geneviewrs193922572
scholarrs193922572
googlers193922572
pharmgkbrs193922572
gwascentralrs193922572
openSNPrs193922572
23andMers193922572
23andMe allrs193922572
SNP Nexus

SNPshotrs193922572
SNPdbers193922572
MSV3drs193922572
GWAS Ctlgrs193922572
Max Magnitude0
ClinVar
Risk rs193922572(T;T)
Alt rs193922572(T;T)
Reference rs193922572(G;G)
Significance Probable-Pathogenic
Disease Histiocytic medullary reticulosis
Variation info
Gene RAG2 C11orf74
CLNDBN Histiocytic medullary reticulosis
Reversed 1
HGVS NC_000011.9:g.36614472C>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030396.1,


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[PMID 17572155] GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

[PMID 18025461OA-icon.png] The plant homeodomain finger of RAG2 recognizes histone H3 methylated at both lysine-4 and arginine-2.

[PMID 18682256OA-icon.png] PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.