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rs3740955

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs3740955(A;G)
Make rs3740955(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36574050
GeneRAG1
is asnp
is mentioned by
dbSNPrs3740955
ebirs3740955
HLIrs3740955
Exacrs3740955
Varsomers3740955
Maprs3740955
PheGenIrs3740955
hapmaprs3740955
1000 genomesrs3740955
hgdprs3740955
ensemblrs3740955
gopubmedrs3740955
geneviewrs3740955
scholarrs3740955
googlers3740955
pharmgkbrs3740955
gwascentralrs3740955
openSNPrs3740955
23andMers3740955
23andMe allrs3740955
SNP Nexus

SNPshotrs3740955
SNPdbers3740955
MSV3drs3740955
GWAS Ctlgrs3740955
GMAF0.4091
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene RAG1
allele G
frequency 0.405
sift TOLERATED
HuRef 1103649659129
Disease Association Defects in RAG1 are a cause of Omenn syndrome (OS) (MIM:603554). OS is a severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T cells, hypereosinophilia, and high IgE levels.



Neighborrs28933393
Distance280


GET Evidence
RAG1-H249R
aa_change His249Arg
aa_change_short H249R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.468767
summary



ClinVar
Risk rs3740955(G;G)
Alt rs3740955(G;G)
Reference rs3740955(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene RAG1
CLNDBN not specified
Reversed 0
HGVS NC_000011.9:g.36595600A\x3d
CLNSRC ClinVar GeneDx
CLNACC RCV000127709.1,