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rs3820129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 0
Make rs3820129(A;A)
Make rs3820129(A;G)
Make rs3820129(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position147620166
GeneBCL9
is asnp
is mentioned by
dbSNPrs3820129
ebirs3820129
HLIrs3820129
Exacrs3820129
Varsomers3820129
Maprs3820129
PheGenIrs3820129
hapmaprs3820129
1000 genomesrs3820129
hgdprs3820129
ensemblrs3820129
gopubmedrs3820129
geneviewrs3820129
scholarrs3820129
googlers3820129
pharmgkbrs3820129
gwascentralrs3820129
openSNPrs3820129
23andMers3820129
23andMe allrs3820129
SNP Nexus

SNPshotrs3820129
SNPdbers3820129
MSV3drs3820129
GWAS Ctlgrs3820129
GMAF0.2176
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene BCL9
allele T
frequency 0.442
sift TOLERATED
HuRef 1103675218327
Disease Association A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3' untranslated region of BCL9 have been found in B-cell malignancies.



GET Evidence
BCL9-P671S
aa_change Pro671Ser
aa_change_short P671S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.295687
summary