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

rs104894289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894289(C;T)
Make rs104894289(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36574490
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894289
ebirs104894289
HLIrs104894289
Exacrs104894289
Varsomers104894289
Maprs104894289
PheGenIrs104894289
hapmaprs104894289
1000 genomesrs104894289
hgdprs104894289
ensemblrs104894289
gopubmedrs104894289
geneviewrs104894289
scholarrs104894289
googlers104894289
pharmgkbrs104894289
gwascentralrs104894289
openSNPrs104894289
23andMers104894289
23andMe allrs104894289
SNP Nexus

SNPshotrs104894289
SNPdbers104894289
MSV3drs104894289
GWAS Ctlgrs104894289
Max Magnitude0
OMIM179615
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894289(T;T)
Alt rs104894289(T;T)
Reference rs104894289(C;C)
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.36596040C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000014026.24, RCV000059556.1,


[PMID 10606976OA-icon.png] Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.