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rs114025668

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs114025668(A;A)
Make rs114025668(A;G)
Make rs114025668(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position44623042
GeneADA
is asnp
is mentioned by
dbSNPrs114025668
ebirs114025668
HLIrs114025668
Exacrs114025668
Varsomers114025668
Maprs114025668
PheGenIrs114025668
hapmaprs114025668
1000 genomesrs114025668
hgdprs114025668
ensemblrs114025668
gopubmedrs114025668
geneviewrs114025668
scholarrs114025668
googlers114025668
pharmgkbrs114025668
gwascentralrs114025668
openSNPrs114025668
23andMers114025668
23andMe allrs114025668
SNP Nexus

SNPshotrs114025668
SNPdbers114025668
MSV3drs114025668
GWAS Ctlgrs114025668
GMAF0.0004591
Max Magnitude0
OMIM608958
Desc
Variant0015
Relatedalso
ClinVar
Risk rs114025668(T;T)
Alt rs114025668(T;T)
Reference Rs114025668(C;C)
Significance Pathogenic
Disease Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency
Reversed 0
HGVS NC_000020.10:g.43251683C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000002044.2, RCV000059112.1,


[PMID 2166947OA-icon.png] Hot spot mutations in adenosine deaminase deficiency.