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rs6675281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common
(C;T) None
(T;T) None
ReferenceGRCh38 38.1/141
Chromosome1
Position231818355
GeneDISC1
is asnp
is mentioned by
dbSNPrs6675281
ebirs6675281
HLIrs6675281
Exacrs6675281
Varsomers6675281
Maprs6675281
PheGenIrs6675281
hapmaprs6675281
1000 genomesrs6675281
hgdprs6675281
ensemblrs6675281
gopubmedrs6675281
geneviewrs6675281
scholarrs6675281
googlers6675281
pharmgkbrs6675281
gwascentralrs6675281
openSNPrs6675281
23andMers6675281
23andMe allrs6675281
SNP Nexus

SNPshotrs6675281
SNPdbers6675281
MSV3drs6675281
GWAS Ctlgrs6675281
GMAF0.09275
Max Magnitude0
? (C;C) (C;T) (T;T) 28

linked to schizophrenia


Venter snp
Source plos
Gene DISC1
allele T
frequency 0.142
sift
HuRef 1103675362436
Disease Association A chromosomal aberration involving DISC1 segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Translocation t(1;11)(q42.1;q14.3).



OMIM605210
DescDISRUPTED IN SCHIZOPHRENIA 1; DISC1
Variant
Relatedalso
[PMID 19805229OA-icon.png] DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms


[PMID 20505556] Association of DISC1 gene with schizophrenia in families from two distinct French and Algerian populations


[PMID 15386212OA-icon.png] Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder.


[PMID 19255581] Association of DISC1 and TSNAX genes and affective disorders in the depression case-control (DeCC) and bipolar affective case-control (BACCS) studies.


[PMID 19300510OA-icon.png] The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes.


[PMID 19414483OA-icon.png] The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations.


[PMID 20531374] Association of Disrupted in Schizophrenia 1 (DISC1) missense variants with ultra-resistant schizophrenia.


[PMID 21878470OA-icon.png] Effect of DISC1 on the P300 Waveform in Psychosis.


GET Evidence
DISC1-L607F
aa_change Leu607Phe
aa_change_short L607F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.154304
summary



[PMID 23389941] DISC1 in adult ADHD patients: An association study in two European samples


[PMID 23140672] DISC1 (disrupted-in-schizophrenia 1) is associated with cortical grey matter volumes in the human brain: a voxel-based morphometry (VBM) study


ClinVar
Risk rs6675281(T;T)
Alt rs6675281(T;T)
Reference rs6675281(C;C)
Significance Untested
Disease not provided
Variation info
Gene DISC2 TSNAX-DISC1 DISC1
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.231954101C>T
CLNSRC ClinVar
CLNACC RCV000084646.1,



[PMID 23602339] Human brain imaging studies of DISC1 in schizophrenia, bipolar disorder and depression: a systematic review.