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rs193922575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922575(A;C)
Make rs193922575(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position36593841
GeneC11orf74, RAG2
is asnp
is mentioned by
dbSNPrs193922575
dbSNP (classic)rs193922575
ClinGenrs193922575
ebirs193922575
HLIrs193922575
Exacrs193922575
Gnomadrs193922575
Varsomers193922575
LitVarrs193922575
Maprs193922575
PheGenIrs193922575
Biobankrs193922575
1000 genomesrs193922575
hgdprs193922575
ensemblrs193922575
geneviewrs193922575
scholarrs193922575
googlers193922575
pharmgkbrs193922575
gwascentralrs193922575
openSNPrs193922575
23andMers193922575
SNPshotrs193922575
SNPdbers193922575
MSV3drs193922575
GWAS Ctlgrs193922575
Max Magnitude0
ClinVar
Risk rs193922575(C;C) rs193922575(G;G)
Alt rs193922575(C;C) rs193922575(G;G)
Reference Rs193922575(A;A)
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.36615391T>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030399.1,