Have questions? Visit https://www.reddit.com/r/SNPedia

rs28933392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28933392(A;A)
Make rs28933392(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position36575468
GeneRAG1
is asnp
is mentioned by
dbSNPrs28933392
ebirs28933392
HLIrs28933392
Exacrs28933392
Varsomers28933392
Maprs28933392
PheGenIrs28933392
hapmaprs28933392
1000 genomesrs28933392
hgdprs28933392
ensemblrs28933392
gopubmedrs28933392
geneviewrs28933392
scholarrs28933392
googlers28933392
pharmgkbrs28933392
gwascentralrs28933392
openSNPrs28933392
23andMers28933392
23andMe allrs28933392
SNP Nexus

SNPshotrs28933392
SNPdbers28933392
MSV3drs28933392
GWAS Ctlgrs28933392
Max Magnitude0
OMIM179615
DescSEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
Variant0001
Relatedalso


ClinVar
Risk rs28933392(A;A)
Alt rs28933392(A;A)
Reference rs28933392(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.36597018G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014021.24,