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rs104894292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894292(A;G)
Make rs104894292(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36574590
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894292
dbSNP (classic)rs104894292
ClinGenrs104894292
ebirs104894292
HLIrs104894292
Exacrs104894292
Gnomadrs104894292
Varsomers104894292
LitVarrs104894292
Maprs104894292
PheGenIrs104894292
Biobankrs104894292
1000 genomesrs104894292
hgdprs104894292
ensemblrs104894292
geneviewrs104894292
scholarrs104894292
googlers104894292
pharmgkbrs104894292
gwascentralrs104894292
openSNPrs104894292
23andMers104894292
SNPshotrs104894292
SNPdbers104894292
MSV3drs104894292
GWAS Ctlgrs104894292
Max Magnitude0
OMIM179615
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894292(G;G) rs104894292(T;T)
Alt rs104894292(G;G) rs104894292(T;T)
Reference Rs104894292(A;A)
Significance Pathogenic
Disease Histiocytic medullary reticulosis
Variation info
Gene RAG1
CLNDBN Histiocytic medullary reticulosis
Reversed 0
HGVS NC_000011.9:g.36596140A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014029.18,