rs3738401
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | |
| (G;G) | 0 | common in clinvar |
| Make rs3738401(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 231694549 |
| Gene | DISC1, TSNAX-DISC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3738401 |
| dbSNP (classic) | rs3738401 |
| ClinGen | rs3738401 |
| ebi | rs3738401 |
| HLI | rs3738401 |
| Exac | rs3738401 |
| Gnomad | rs3738401 |
| Varsome | rs3738401 |
| LitVar | rs3738401 |
| Map | rs3738401 |
| PheGenI | rs3738401 |
| Biobank | rs3738401 |
| 1000 genomes | rs3738401 |
| hgdp | rs3738401 |
| ensembl | rs3738401 |
| geneview | rs3738401 |
| scholar | rs3738401 |
| rs3738401 | |
| pharmgkb | rs3738401 |
| gwascentral | rs3738401 |
| openSNP | rs3738401 |
| 23andMe | rs3738401 |
| SNPshot | rs3738401 |
| SNPdbe | rs3738401 |
| MSV3d | rs3738401 |
| GWAS Ctlg | rs3738401 |
| GMAF | 0.2805 |
| Max Magnitude | 2 |
| ? | (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).
[PMID 15386212
] 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 19197363] 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 19300510] The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes.
[PMID 19693267] 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 21483430] Impact of DISC1 variation on neuroanatomical and neurocognitive phenotypes.
[PMID 21878470] Effect of DISC1 on the P300 Waveform in Psychosis.
| 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, |
