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rs104894288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894288(A;C)
Make rs104894288(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position36576246
GeneRAG1
is asnp
is mentioned by
dbSNPrs104894288
ebirs104894288
HLIrs104894288
Exacrs104894288
Varsomers104894288
Maprs104894288
PheGenIrs104894288
hapmaprs104894288
1000 genomesrs104894288
hgdprs104894288
ensemblrs104894288
gopubmedrs104894288
geneviewrs104894288
scholarrs104894288
googlers104894288
pharmgkbrs104894288
gwascentralrs104894288
openSNPrs104894288
23andMers104894288
23andMe allrs104894288
SNP Nexus

SNPshotrs104894288
SNPdbers104894288
MSV3drs104894288
GWAS Ctlgrs104894288
Max Magnitude0
OMIM179615
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104894288(C;C)
Alt rs104894288(C;C)
Reference rs104894288(A;A)
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.36597796A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014041.24,