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rs730880296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880296(A;A)
Make rs730880296(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position118340370
GeneCD3D
is asnp
is mentioned by
dbSNPrs730880296
dbSNP (classic)rs730880296
ClinGenrs730880296
ebirs730880296
HLIrs730880296
Exacrs730880296
Gnomadrs730880296
Varsomers730880296
LitVarrs730880296
Maprs730880296
PheGenIrs730880296
Biobankrs730880296
1000 genomesrs730880296
hgdprs730880296
ensemblrs730880296
geneviewrs730880296
scholarrs730880296
googlers730880296
pharmgkbrs730880296
gwascentralrs730880296
openSNPrs730880296
23andMers730880296
SNPshotrs730880296
SNPdbers730880296
MSV3drs730880296
GWAS Ctlgrs730880296
Max Magnitude0
ClinVar
Risk rs730880296(A;A)
Alt rs730880296(A;A)
Reference Rs730880296(G;G)
Significance Pathogenic
Disease Immunodeficiency 19
Variation info
Gene CD3D
CLNDBN Immunodeficiency 19
Reversed 1
HGVS NC_000011.9:g.118211085C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000157634.2,