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rs28930971

From SNPedia

Merged intors121908735
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
Make rs28930971(C;T)
Make rs28930971(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44625581
GeneADA
is asnp
is mentioned by
dbSNPrs28930971
dbSNP (classic)rs28930971
ClinGenrs28930971
ebirs28930971
HLIrs28930971
Exacrs28930971
Gnomadrs28930971
Varsomers28930971
LitVarrs28930971
Maprs28930971
PheGenIrs28930971
Biobankrs28930971
1000 genomesrs28930971
hgdprs28930971
ensemblrs28930971
geneviewrs28930971
scholarrs28930971
googlers28930971
pharmgkbrs28930971
gwascentralrs28930971
openSNPrs28930971
23andMers28930971
SNPshotrs28930971
SNPdbers28930971
MSV3drs28930971
GWAS Ctlgrs28930971
StatusMerged into rs121908735
Max Magnitude0
OMIM608958
DescSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
Variant0018
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