Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918574(A;A)
Make rs121918574(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position36593939
GeneC11orf74, RAG2
is asnp
is mentioned by
dbSNPrs121918574
ClinGenrs121918574
ebirs121918574
HLIrs121918574
Exacrs121918574
Varsomers121918574
Maprs121918574
PheGenIrs121918574
hapmaprs121918574
1000 genomesrs121918574
hgdprs121918574
ensemblrs121918574
gopubmedrs121918574
geneviewrs121918574
scholarrs121918574
googlers121918574
pharmgkbrs121918574
gwascentralrs121918574
openSNPrs121918574
23andMers121918574
23andMe allrs121918574
SNP Nexus

SNPshotrs121918574
SNPdbers121918574
MSV3drs121918574
GWAS Ctlgrs121918574
Max Magnitude0
OMIM179616
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918574(A;A)
Alt rs121918574(A;A)
Reference Rs121918574(C;C)
Significance Pathogenic
Disease Combined cellular and humoral immune defects with granulomas
Variation info
Gene RAG2 C11orf74
CLNDBN Combined cellular and humoral immune defects with granulomas
Reversed 1
HGVS NC_000011.9:g.36615489G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014019.23,