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rs1057520020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520020(A;A)
Make rs1057520020(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position17834908
GeneJAK3
is asnp
is mentioned by
dbSNPrs1057520020
dbSNP (old)rs1057520020
ClinGenrs1057520020
ebirs1057520020
HLIrs1057520020
Exacrs1057520020
Gnomadrs1057520020
Varsomers1057520020
LitVarrs1057520020
Maprs1057520020
PheGenIrs1057520020
Biobankrs1057520020
1000 genomesrs1057520020
hgdprs1057520020
ensemblrs1057520020
gopubmedrs1057520020
geneviewrs1057520020
scholarrs1057520020
googlers1057520020
pharmgkbrs1057520020
gwascentralrs1057520020
openSNPrs1057520020
23andMers1057520020
23andMe allrs1057520020
SNPshotrs1057520020
SNPdbers1057520020
MSV3drs1057520020
GWAS Ctlgrs1057520020
Max Magnitude0
ClinVar
Risk rs1057520020(A;A)
Alt rs1057520020(A;A)
Reference Rs1057520020(G;G)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene JAK3
CLNDBN Severe combined immunodeficiency disease
Reversed 1
HGVS NC_000019.9:g.17945717C>T
CLNSRC
CLNACC RCV000431542.1,