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rs420259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1.9 Half the risk of developing Bipolar Disorder.
(C;T) 1.5 Possibly reduced risk of Bipolar Disorder.
(T;T) 1.5 Normal risk of Bipolar Disorder.
ReferenceGRCh38 38.1/141
Chromosome16
Position23622705
GenePALB2
is asnp
is mentioned by
dbSNPrs420259
ebirs420259
HLIrs420259
Exacrs420259
Varsomers420259
Maprs420259
PheGenIrs420259
hapmaprs420259
1000 genomesrs420259
hgdprs420259
ensemblrs420259
gopubmedrs420259
geneviewrs420259
scholarrs420259
googlers420259
pharmgkbrs420259
gwascentralrs420259
openSNPrs420259
23andMers420259
23andMe allrs420259
SNP Nexus

SNPshotrs420259
SNPdbers420259
MSV3drs420259
GWAS Ctlgrs420259
GMAF0.3434
Max Magnitude1.9
? (C;C) (C;T) (T;T) 28

Linked to bipolar disorder in one of the most comprehensive studies in 2007. Risk allele with reference to dbSNP orientation is reported to be (T), with either one or two copies leading to an odds ratio of 2 (CI 1.6-2.7). [PMID 17554300OA-icon.png]

Some replications, but in 2011 23andMe published as failed to replicate in 10.1371/journal.pone.0023473

GWAS
SNP rs420259
PubMedID [PMID 17554300OA-icon.png]
Condition Bipolar disorder
Gene PALB2,NDUFAB1,DCTN5
Risk Allele T
pValue 6.00E-008
OR 2.08
95% CI 1.60-2.71


OMIM611247
DescMAJOR AFFECTIVE DISORDER 4; MAFD4
Variant
Relatedalso



[PMID 20872766] Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case-control sample

GWAS snp
PMID [PMID 21254220OA-icon.png]
Trait
Title Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
Risk Allele
P-val 9E-9
Odds Ratio None None

[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

[PMID 19308021OA-icon.png] Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort.

[PMID 19931040OA-icon.png] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.


GET Evidence
rs420259
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.301587
summary