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rs140504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.4x increased risk for bipolar disorder
(A;G) 1.4x increased risk for bipolar disorder
(G;G) normal risk
ReferenceGRCh38 38.1/141
Chromosome22
Position23285182
GeneBCR
is asnp
is mentioned by
dbSNPrs140504
ebirs140504
HLIrs140504
Exacrs140504
Varsomers140504
Maprs140504
PheGenIrs140504
hapmaprs140504
1000 genomesrs140504
hgdprs140504
ensemblrs140504
gopubmedrs140504
geneviewrs140504
scholarrs140504
googlers140504
pharmgkbrs140504
gwascentralrs140504
openSNPrs140504
23andMers140504
23andMe allrs140504
SNP Nexus

SNPshotrs140504
SNPdbers140504
MSV3drs140504
GWAS Ctlgrs140504
GMAF0.2025
Max Magnitude
? (A;A) (A;G) (G;G) 28
rs140504, a SNP in the BCR gene on chromosome 22, has been associated with increased risk for bipolar disorder. The odds ratio for carriers of the minor allele (G) are reported as 1.45 (CI:1.11 - 1.84, p=0.0054) based on a study of 171 Japanese patients.[PMID 15866548]


Venter snp
Source plos
Gene BCR
allele G
frequency 0.125
sift TOLERATED
HuRef 1103691014305
Disease Association A chromosomal aberration involving BCR is a cause of chronic myeloid leukemia (CML) (MIM:608232). Translocation t(9;22)(q34;q11) with ABL1. The translocation produces a BCR-ABL found also in acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL).



OMIM125480
DescMAJOR AFFECTIVE DISORDER 1; MAFD1
Variant
Relatedalso


GET Evidence
BCR-N796S
aa_change Asn796Ser
aa_change_short N796S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.876743
summary