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rs3212723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3212723(A;A)
Make rs3212723(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position17843406
GeneJAK3
is asnp
is mentioned by
dbSNPrs3212723
dbSNP (classic)rs3212723
ClinGenrs3212723
ebirs3212723
HLIrs3212723
Exacrs3212723
Gnomadrs3212723
Varsomers3212723
LitVarrs3212723
Maprs3212723
PheGenIrs3212723
Biobankrs3212723
1000 genomesrs3212723
hgdprs3212723
ensemblrs3212723
geneviewrs3212723
scholarrs3212723
googlers3212723
pharmgkbrs3212723
gwascentralrs3212723
openSNPrs3212723
23andMers3212723
23andMe allrs3212723
SNPshotrs3212723
SNPdbers3212723
MSV3drs3212723
GWAS Ctlgrs3212723
Max Magnitude0
? (A;A) (A;C) (C;C) 28


ClinVar
Risk rs3212723(A;A)
Alt rs3212723(A;A)
Reference Rs3212723(C;C)
Significance Probable-Pathogenic
Disease not specified Severe Combined Immune Deficiency Lymphoblastic leukemia Acute megakaryoblastic leukemia
Variation info
Gene JAK3
CLNDBN not specified Severe Combined Immune Deficiency Lymphoblastic leukemia, acute, with lymphomatous features Acute megakaryoblastic leukemia
Reversed 1
HGVS NC_000019.9:g.17954215G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000121269.2, RCV000281289.1, RCV000433061.1, RCV000442628.1,