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rs104894283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894283(G;G)
Make rs104894283(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36576118
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894283
ebirs104894283
HLIrs104894283
Exacrs104894283
Varsomers104894283
Maprs104894283
PheGenIrs104894283
hapmaprs104894283
1000 genomesrs104894283
hgdprs104894283
ensemblrs104894283
gopubmedrs104894283
geneviewrs104894283
scholarrs104894283
googlers104894283
pharmgkbrs104894283
gwascentralrs104894283
openSNPrs104894283
23andMers104894283
23andMe allrs104894283
SNP Nexus

SNPshotrs104894283
SNPdbers104894283
MSV3drs104894283
GWAS Ctlgrs104894283
Max Magnitude0
OMIM179615
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894283(G;G)
Alt rs104894283(G;G)
Reference rs104894283(T;T)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene RAG1
CLNDBN Severe combined immunodeficiency, b cell-negative
Reversed 0
HGVS NC_000011.9:g.36597668T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014023.25,