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rs104894286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894286(A;A)
Make rs104894286(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36575514
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894286
ebirs104894286
HLIrs104894286
Exacrs104894286
Varsomers104894286
Maprs104894286
PheGenIrs104894286
hapmaprs104894286
1000 genomesrs104894286
hgdprs104894286
ensemblrs104894286
gopubmedrs104894286
geneviewrs104894286
scholarrs104894286
googlers104894286
pharmgkbrs104894286
gwascentralrs104894286
openSNPrs104894286
23andMers104894286
23andMe allrs104894286
SNP Nexus

SNPshotrs104894286
SNPdbers104894286
MSV3drs104894286
GWAS Ctlgrs104894286
Max Magnitude0
OMIM179615
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894286(A;A)
Alt rs104894286(A;A)
Reference rs104894286(G;G)
Significance Pathogenic
Disease Histiocytic medullary reticulosis Combined cellular and humoral immune defects with granulomas
Variation info
Gene RAG1
CLNDBN Histiocytic medullary reticulosis Combined cellular and humoral immune defects with granulomas
Reversed 0
HGVS NC_000011.9:g.36597064G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014032.24, RCV000014043.25,