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rs121908725

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908725(C;G)
Make rs121908725(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position44636279
GeneADA
is asnp
is mentioned by
dbSNPrs121908725
dbSNP (old)rs121908725
ClinGenrs121908725
ebirs121908725
HLIrs121908725
Exacrs121908725
Gnomadrs121908725
Varsomers121908725
Maprs121908725
PheGenIrs121908725
Biobankrs121908725
1000 genomesrs121908725
hgdprs121908725
ensemblrs121908725
gopubmedrs121908725
geneviewrs121908725
scholarrs121908725
googlers121908725
pharmgkbrs121908725
gwascentralrs121908725
openSNPrs121908725
23andMers121908725
23andMe allrs121908725
SNPshotrs121908725
SNPdbers121908725
MSV3drs121908725
GWAS Ctlgrs121908725
Max Magnitude0
ClinVar
Risk rs121908725(G;G)
Alt rs121908725(G;G)
Reference Rs121908725(C;C)
Significance 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.43264920G>C
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059102.1, RCV000429669.1,