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rs267606635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606635(C;G)
Make rs267606635(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44626502
GeneADA
is asnp
is mentioned by
dbSNPrs267606635
ebirs267606635
HLIrs267606635
Exacrs267606635
Varsomers267606635
Maprs267606635
PheGenIrs267606635
hapmaprs267606635
1000 genomesrs267606635
hgdprs267606635
ensemblrs267606635
gopubmedrs267606635
geneviewrs267606635
scholarrs267606635
googlers267606635
pharmgkbrs267606635
gwascentralrs267606635
openSNPrs267606635
23andMers267606635
23andMe allrs267606635
SNP Nexus

SNPshotrs267606635
SNPdbers267606635
MSV3drs267606635
GWAS Ctlgrs267606635
Max Magnitude0
ClinVar
Risk rs267606635(G;G)
Alt rs267606635(G;G)
Reference rs267606635(C;C)
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.43255143G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002058.3,