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rs121908724

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908724(A;A)
Make rs121908724(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position44636264
GeneADA
is asnp
is mentioned by
dbSNPrs121908724
dbSNP (old)rs121908724
ClinGenrs121908724
ebirs121908724
HLIrs121908724
Exacrs121908724
Gnomadrs121908724
Varsomers121908724
Maprs121908724
PheGenIrs121908724
Biobankrs121908724
1000 genomesrs121908724
hgdprs121908724
ensemblrs121908724
gopubmedrs121908724
geneviewrs121908724
scholarrs121908724
googlers121908724
pharmgkbrs121908724
gwascentralrs121908724
openSNPrs121908724
23andMers121908724
23andMe allrs121908724
SNPshotrs121908724
SNPdbers121908724
MSV3drs121908724
GWAS Ctlgrs121908724
Max Magnitude0
ClinVar
Risk rs121908724(A;A)
Alt rs121908724(A;A)
Reference Rs121908724(G;G)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency due to ADA deficiency not provided
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency due to ADA deficiency not provided
Reversed 1
HGVS NC_000020.10:g.43264905C>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059109.1, RCV000494092.1,