rs2070106
Orientation | plus |
Stabilized | plus |
Make rs2070106(A;A) |
Make rs2070106(A;G) |
Make rs2070106(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 41973846 |
Gene | CNP |
is a | snp |
is | mentioned by |
dbSNP | rs2070106 |
dbSNP (classic) | rs2070106 |
ClinGen | rs2070106 |
ebi | rs2070106 |
HLI | rs2070106 |
Exac | rs2070106 |
Gnomad | rs2070106 |
Varsome | rs2070106 |
LitVar | rs2070106 |
Map | rs2070106 |
PheGenI | rs2070106 |
Biobank | rs2070106 |
1000 genomes | rs2070106 |
hgdp | rs2070106 |
ensembl | rs2070106 |
geneview | rs2070106 |
scholar | rs2070106 |
rs2070106 | |
pharmgkb | rs2070106 |
gwascentral | rs2070106 |
openSNP | rs2070106 |
23andMe | rs2070106 |
SNPshot | rs2070106 |
SNPdbe | rs2070106 |
MSV3d | rs2070106 |
GWAS Ctlg | rs2070106 |
GMAF | 0.2626 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
Based on a study of 790 individuals from 245 nuclear families (220 families were European Caucasian; 300 of the probands had a diagosis of schizophrenia), the rs2070106(G) allele was overtransmitted to affected offspring.[PMID 18496213]
This actually conflicts with a previous report [PMID 16389193] in which the rs2070106(A) allele was identified (also in Caucasians) in a combined gene association/expression study as associated with schizophrenia.
This is either a case of the "flip-flop" phenomenon [PMID 17273975] in which multilocus effects and variation in interlocus correlations reverse a previously reported association, or perhaps more likely, a false positive.
[PMID 17306456] Case-control association study of the 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP) gene and schizophrenia in the Han Chinese population.
[PMID 17964117] Expression of oligodendrocyte-associated genes in dorsolateral prefrontal cortex of patients with schizophrenia.
[PMID 18289148] Effect of a functional single nucleotide polymorphism in the 2',3'-cyclic nucleotide 3'-phosphodiesterase gene on the expression of oligodendrocyte-related genes in schizophrenia.
[PMID 19348671] No relationship between 2',3'-cyclic nucleotide 3'-phosphodiesterase and schizophrenia in the Chinese Han population: an expression study and meta-analysis.
[PMID 22473874] A myelin gene causative of a catatonia-depression syndrome upon aging.
[PMID 23032943] The association of white matter volume in psychotic disorders with genotypic variation in NRG1, MOG and CNP: a voxel-based analysis in affected individuals and their unaffected relatives