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rs387906267

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906267(A;G)
Make rs387906267(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44626601
GeneADA
is asnp
is mentioned by
dbSNPrs387906267
ebirs387906267
HLIrs387906267
Exacrs387906267
Varsomers387906267
Maprs387906267
PheGenIrs387906267
hapmaprs387906267
1000 genomesrs387906267
hgdprs387906267
ensemblrs387906267
gopubmedrs387906267
geneviewrs387906267
scholarrs387906267
googlers387906267
pharmgkbrs387906267
gwascentralrs387906267
openSNPrs387906267
23andMers387906267
23andMe allrs387906267
SNP Nexus

SNPshotrs387906267
SNPdbers387906267
MSV3drs387906267
GWAS Ctlgrs387906267
Max Magnitude0
ClinVar
Risk rs387906267(G;G)
Alt rs387906267(G;G)
Reference rs387906267(A;A)
Significance Pathogenic
Disease Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency due to ADA deficiency
Reversed 1
HGVS NC_000020.10:g.43255242T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002046.2,