Rs140504

From SNPedia

Jump to: navigation, search
is asnp
is mentioned by
dbSNPrs140504
hapmaprs140504
hgdprs140504
ensemblrs140504
gopubmedrs140504
scholarrs140504
googlers140504
pharmgkbrs140504
hgvbaseg2prs140504
medrefsnprs140504
23andMers140504
SNP Nexus

GeneBCR
Chromosome22
Orientationplus
Position21957368
GenotypeEffect
rs140504(A;A)1.4x increased risk for bipolar disorder
rs140504(A;G)1.4x increased risk for bipolar disorder
rs140504(G;G)normal risk


Genotypes Magnitude Summary
Rs140504(A;A) 1.4x increased risk for bipolar disorder
Rs140504(A;G) 1.4x increased risk for bipolar disorder
Rs140504(G;G) normal risk
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]
? (A;A) (A;G) (G;G)


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).



Related to MAJOR AFFECTIVE DISORDER 1; MAFD1 according to omim 125480. See also