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rs104894282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894282(G;T)
Make rs104894282(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36575624
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894282
ebirs104894282
HLIrs104894282
Exacrs104894282
Varsomers104894282
Maprs104894282
PheGenIrs104894282
hapmaprs104894282
1000 genomesrs104894282
hgdprs104894282
ensemblrs104894282
gopubmedrs104894282
geneviewrs104894282
scholarrs104894282
googlers104894282
pharmgkbrs104894282
gwascentralrs104894282
openSNPrs104894282
23andMers104894282
23andMe allrs104894282
SNP Nexus

SNPshotrs104894282
SNPdbers104894282
MSV3drs104894282
GWAS Ctlgrs104894282
Max Magnitude0
OMIM179615
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894282(A,T;A,T)
Alt rs104894282(A,T;A,T)
Reference rs104894282(G;G)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene RAG1
CLNDBN Severe combined immunodeficiency, b cell-negative
Reversed 0
HGVS NC_000011.9:g.36597174G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014022.25,