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rs104894290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894290(A;G)
Make rs104894290(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36576039
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894290
dbSNP (classic)rs104894290
ClinGenrs104894290
ebirs104894290
HLIrs104894290
Exacrs104894290
Gnomadrs104894290
Varsomers104894290
LitVarrs104894290
Maprs104894290
PheGenIrs104894290
Biobankrs104894290
1000 genomesrs104894290
hgdprs104894290
ensemblrs104894290
geneviewrs104894290
scholarrs104894290
googlers104894290
pharmgkbrs104894290
gwascentralrs104894290
openSNPrs104894290
23andMers104894290
SNPshotrs104894290
SNPdbers104894290
MSV3drs104894290
GWAS Ctlgrs104894290
Max Magnitude0
OMIM179615
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894290(G;G)
Alt rs104894290(G;G)
Reference Rs104894290(A;A)
Significance Pathogenic
Disease Histiocytic medullary reticulosis
Variation info
Gene RAG1
CLNDBN Histiocytic medullary reticulosis
Reversed 0
HGVS NC_000011.9:g.36597589A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014027.25,