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rs746052951

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs746052951(C;T)
Make rs746052951(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position44622828
GeneADA
is asnp
is mentioned by
dbSNPrs746052951
ebirs746052951
HLIrs746052951
Exacrs746052951
Varsomers746052951
Maprs746052951
PheGenIrs746052951
hapmaprs746052951
1000 genomesrs746052951
hgdprs746052951
ensemblrs746052951
gopubmedrs746052951
geneviewrs746052951
scholarrs746052951
googlers746052951
pharmgkbrs746052951
gwascentralrs746052951
openSNPrs746052951
23andMers746052951
23andMe allrs746052951
SNP Nexus

SNPshotrs746052951
SNPdbers746052951
MSV3drs746052951
GWAS Ctlgrs746052951
Max Magnitude0
ClinVar
Risk rs746052951(T;T)
Alt rs746052951(T;T)
Reference rs746052951(C;C)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency due to ADA deficiency
Reversed 0
HGVS NC_000020.10:g.43251469C>T
CLNSRC
CLNACC RCV000200442.1,