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rs483352929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs483352929(-;-)
Make rs483352929(-;CC)
ReferenceGRCh38 38.1/142
Chromosome11
Position118312642
GeneCD3E
is asnp
is mentioned by
dbSNPrs483352929
ebirs483352929
HLIrs483352929
Exacrs483352929
Varsomers483352929
Maprs483352929
PheGenIrs483352929
hapmaprs483352929
1000 genomesrs483352929
hgdprs483352929
ensemblrs483352929
gopubmedrs483352929
geneviewrs483352929
scholarrs483352929
googlers483352929
pharmgkbrs483352929
gwascentralrs483352929
openSNPrs483352929
23andMers483352929
23andMe allrs483352929
SNP Nexus

SNPshotrs483352929
SNPdbers483352929
MSV3drs483352929
GWAS Ctlgrs483352929
Max Magnitude0
ClinVar
Risk rs483352929(;)
Alt rs483352929(;)
Reference rs483352929(CC;CC)
Significance Pathogenic
Disease Immunodeficiency 18
Variation info
Gene CD3E
CLNDBN Immunodeficiency 18, severe combined immunodeficiency variant
Reversed 0
HGVS NC_000011.9:g.118183357_118183358delCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000087026.3,