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rs104894291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894291(A;A)
Make rs104894291(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36574491
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894291
ebirs104894291
HLIrs104894291
Exacrs104894291
Varsomers104894291
Maprs104894291
PheGenIrs104894291
hapmaprs104894291
1000 genomesrs104894291
hgdprs104894291
ensemblrs104894291
gopubmedrs104894291
geneviewrs104894291
scholarrs104894291
googlers104894291
pharmgkbrs104894291
gwascentralrs104894291
openSNPrs104894291
23andMers104894291
23andMe allrs104894291
SNP Nexus

SNPshotrs104894291
SNPdbers104894291
MSV3drs104894291
GWAS Ctlgrs104894291
Max Magnitude0
OMIM179615
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894291(A,T;A,T)
Alt rs104894291(A,T;A,T)
Reference rs104894291(G;G)
Significance Pathogenic
Disease Histiocytic medullary reticulosis not provided
Variation info
Gene RAG1
CLNDBN Histiocytic medullary reticulosis not provided
Reversed 0
HGVS NC_000011.9:g.36596041G>A; NC_000011.9:g.36596041G>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000014028.25, RCV000059557.1,


[PMID 11133745] V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.