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rs398123063

From SNPedia

Rare inherited variant associated with a form of B-cell leukemia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 increased risk for pre-B cell acute lymphoblastic leukemia (B-ALL)
(A;G) 3 associated with increased risk for pre-B cell acute lymphoblastic leukemia (B-ALL)
(G;G) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome9
Position37002705
GenePAX5
is asnp
is mentioned by
dbSNPrs398123063
ebirs398123063
HLIrs398123063
Exacrs398123063
Varsomers398123063
Maprs398123063
PheGenIrs398123063
hapmaprs398123063
1000 genomesrs398123063
hgdprs398123063
ensemblrs398123063
gopubmedrs398123063
geneviewrs398123063
scholarrs398123063
googlers398123063
pharmgkbrs398123063
gwascentralrs398123063
openSNPrs398123063
23andMers398123063
23andMe allrs398123063
SNP Nexus

SNPshotrs398123063
SNPdbers398123063
MSV3drs398123063
GWAS Ctlgrs398123063
Max Magnitude3
rs398123063(A), a rare variation known as c.547G>A or Gly183Ser, has been associated with autosomal dominant B cell precursor acute lymphoblastic leukemia (B-ALL). Individuals carrying this variation appear to require the deletion or inactivation of their normal allele at this locus to develop clinical symptoms of B-ALL.[PMID 24013638OA-icon.png]
ClinVar
Risk rs398123063(A;A)
Alt rs398123063(A;A)
Reference rs398123063(G;G)
Significance Other
Disease Leukemia
Variation info
Gene PAX5
CLNDBN Leukemia, acute lymphoblastic, susceptibility to, 3
Reversed 1
HGVS NC_000009.11:g.37002702C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074461.3,