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

rs121918575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918575(C;C)
Make rs121918575(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36592817
GeneC11orf74, RAG2
is asnp
is mentioned by
dbSNPrs121918575
ebirs121918575
HLIrs121918575
Exacrs121918575
Varsomers121918575
Maprs121918575
PheGenIrs121918575
hapmaprs121918575
1000 genomesrs121918575
hgdprs121918575
ensemblrs121918575
gopubmedrs121918575
geneviewrs121918575
scholarrs121918575
googlers121918575
pharmgkbrs121918575
gwascentralrs121918575
openSNPrs121918575
23andMers121918575
23andMe allrs121918575
SNP Nexus

SNPshotrs121918575
SNPdbers121918575
MSV3drs121918575
GWAS Ctlgrs121918575
Max Magnitude0
OMIM179616
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918575(C;C)
Alt rs121918575(C;C)
Reference rs121918575(G;G)
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.36614367C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014020.25,