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rs104894285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894285(C;T)
Make rs104894285(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36574985
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894285
ebirs104894285
HLIrs104894285
Exacrs104894285
Varsomers104894285
Maprs104894285
PheGenIrs104894285
hapmaprs104894285
1000 genomesrs104894285
hgdprs104894285
ensemblrs104894285
gopubmedrs104894285
geneviewrs104894285
scholarrs104894285
googlers104894285
pharmgkbrs104894285
gwascentralrs104894285
openSNPrs104894285
23andMers104894285
23andMe allrs104894285
SNP Nexus

SNPshotrs104894285
SNPdbers104894285
MSV3drs104894285
GWAS Ctlgrs104894285
Max Magnitude0
OMIM179615
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894285(T;T)
Alt rs104894285(T;T)
Reference rs104894285(C;C)
Significance Pathogenic
Disease Histiocytic medullary reticulosis Severe combined immunodeficiency
Variation info
Gene RAG1
CLNDBN Histiocytic medullary reticulosis Severe combined immunodeficiency, b cell-negative
Reversed 0
HGVS NC_000011.9:g.36596535C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014030.24, RCV000014031.24,