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rs387906268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906268(A;A)
Make rs387906268(A;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44619862
GeneADA
is asnp
is mentioned by
dbSNPrs387906268
ebirs387906268
HLIrs387906268
Exacrs387906268
Varsomers387906268
Maprs387906268
PheGenIrs387906268
hapmaprs387906268
1000 genomesrs387906268
hgdprs387906268
ensemblrs387906268
gopubmedrs387906268
geneviewrs387906268
scholarrs387906268
googlers387906268
pharmgkbrs387906268
gwascentralrs387906268
openSNPrs387906268
23andMers387906268
23andMe allrs387906268
SNP Nexus

SNPshotrs387906268
SNPdbers387906268
MSV3drs387906268
GWAS Ctlgrs387906268
Max Magnitude0
ClinVar
Risk rs387906268(A;A)
Alt rs387906268(A;A)
Reference rs387906268(T;T)
Significance Pathogenic
Disease SCID due to ADA deficiency
Variation info
Gene ADA
CLNDBN SCID due to ADA deficiency, delayed onset
Reversed 1
HGVS NC_000020.10:g.43248503A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002059.2,