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rs104894287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894287(C;T)
Make rs104894287(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position36575825
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894287
ebirs104894287
HLIrs104894287
Exacrs104894287
Varsomers104894287
Maprs104894287
PheGenIrs104894287
hapmaprs104894287
1000 genomesrs104894287
hgdprs104894287
ensemblrs104894287
gopubmedrs104894287
geneviewrs104894287
scholarrs104894287
googlers104894287
pharmgkbrs104894287
gwascentralrs104894287
openSNPrs104894287
23andMers104894287
23andMe allrs104894287
SNP Nexus

SNPshotrs104894287
SNPdbers104894287
MSV3drs104894287
GWAS Ctlgrs104894287
Max Magnitude0
OMIM179615
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894287(T;T)
Alt rs104894287(T;T)
Reference rs104894287(C;C)
Significance Pathogenic
Disease Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion
Variation info
Gene RAG1
CLNDBN Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Reversed 0
HGVS NC_000011.9:g.36597375C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014040.23,