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rs587776534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776534(C;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position44651574
GeneADA
is asnp
is mentioned by
dbSNPrs587776534
ebirs587776534
HLIrs587776534
Exacrs587776534
Varsomers587776534
Maprs587776534
PheGenIrs587776534
hapmaprs587776534
1000 genomesrs587776534
hgdprs587776534
ensemblrs587776534
gopubmedrs587776534
geneviewrs587776534
scholarrs587776534
googlers587776534
pharmgkbrs587776534
gwascentralrs587776534
openSNPrs587776534
23andMers587776534
23andMe allrs587776534
SNP Nexus

SNPshotrs587776534
SNPdbers587776534
MSV3drs587776534
GWAS Ctlgrs587776534
Max Magnitude0
ClinVar
Risk rs587776534(C;C)
Alt rs587776534(C;C)
Reference rs587776534(G;G)
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.43280215C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002053.2,