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rs267606634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606634(A;G)
Make rs267606634(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44626528
GeneADA
is asnp
is mentioned by
dbSNPrs267606634
ebirs267606634
HLIrs267606634
Exacrs267606634
Varsomers267606634
Maprs267606634
PheGenIrs267606634
hapmaprs267606634
1000 genomesrs267606634
hgdprs267606634
ensemblrs267606634
gopubmedrs267606634
geneviewrs267606634
scholarrs267606634
googlers267606634
pharmgkbrs267606634
gwascentralrs267606634
openSNPrs267606634
23andMers267606634
23andMe allrs267606634
SNP Nexus

SNPshotrs267606634
SNPdbers267606634
MSV3drs267606634
GWAS Ctlgrs267606634
Max Magnitude0
ClinVar
Risk rs267606634(G,T;G,T)
Alt rs267606634(G,T;G,T)
Reference rs267606634(A;A)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Reversed 1
HGVS NC_000020.10:g.43255169T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002058.3,