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rs3738401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2
(G;G) 0 common in clinvar
Make rs3738401(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position231694549
GeneDISC1, MAP1LC3C
is asnp
is mentioned by
dbSNPrs3738401
ebirs3738401
HLIrs3738401
Exacrs3738401
Varsomers3738401
Maprs3738401
PheGenIrs3738401
hapmaprs3738401
1000 genomesrs3738401
hgdprs3738401
ensemblrs3738401
gopubmedrs3738401
geneviewrs3738401
scholarrs3738401
googlers3738401
pharmgkbrs3738401
gwascentralrs3738401
openSNPrs3738401
23andMers3738401
23andMe allrs3738401
SNP Nexus

SNPshotrs3738401
SNPdbers3738401
MSV3drs3738401
GWAS Ctlgrs3738401
GMAF0.2805
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs3738401 is a SNP in the DISC1 gene, known as R264Q.

[PMID 16389590] Associated with schizophrenia

[PMID 17673452] 13 single-nucleotide polymorphisms (SNPs) in 723 members of 179 Finnish Bipolar disorder families.

  • rs751229(T) and rs3738401(A) was over-transmitted to males with psychotic disorder.
  • under-transmitted rs821616(T) and rs1411771(T)
  • The risk haplotype for psychotic disorder also associated to perseverations (P = 0.035; for rs751229 alone P = 0.0012), and a protective haplotype G-T-G with rs1655285 in addition to auditory attention (P = 0.0059).
OMIM605210
DescDISRUPTED IN SCHIZOPHRENIA 1; DISC1
Variant
Relatedalso
OMIM605210
Desc
Variant0001
Relatedalso
[PMID 15386212OA-icon.png] Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder.


[PMID 17997036] Association study of polymorphisms between DISC1 and schizophrenia in a Korean population.


[PMID 19197363OA-icon.png] A genome-wide investigation of SNPs and CNVs in schizophrenia.


[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 19693267OA-icon.png] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.


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


[PMID 21483430OA-icon.png] Impact of DISC1 variation on neuroanatomical and neurocognitive phenotypes.


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


GET Evidence
DISC1-R264Q
aa_change Arg264Gln
aa_change_short R264Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.258226
summary



ClinVar
Risk rs3738401(A;A)
Alt rs3738401(A;A)
Reference rs3738401(G;G)
Significance Untested
Disease not provided
Variation info
Gene TSNAX-DISC1 DISC1
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.231830295G>A
CLNSRC ClinVar
CLNACC RCV000084637.1,