rs748693
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs748693(A;A) |
Make rs748693(A;G) |
Make rs748693(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 150974349 |
Gene | KCNH2, LOC107986861 |
is a | snp |
is | mentioned by |
dbSNP | rs748693 |
dbSNP (classic) | rs748693 |
ClinGen | rs748693 |
ebi | rs748693 |
HLI | rs748693 |
Exac | rs748693 |
Gnomad | rs748693 |
Varsome | rs748693 |
LitVar | rs748693 |
Map | rs748693 |
PheGenI | rs748693 |
Biobank | rs748693 |
1000 genomes | rs748693 |
hgdp | rs748693 |
ensembl | rs748693 |
geneview | rs748693 |
scholar | rs748693 |
rs748693 | |
pharmgkb | rs748693 |
gwascentral | rs748693 |
openSNP | rs748693 |
23andMe | rs748693 |
SNPshot | rs748693 |
SNPdbe | rs748693 |
MSV3d | rs748693 |
GWAS Ctlg | rs748693 |
GMAF | 0.2401 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
g2b2mh rs3800779 rs748693 and rs1036145 are associated with a variety of brain parameters such as hippocampal volume, hippocampal activity (declarative memory task) and activity in the dorsolateral prefrontal cortex (DLPFC). The main suggestion of how these variants in KCNH2 might lead to these brain changes and risk for schizophrenia comes from previous findings that mutations in this gene screw up the efflux of K+ ions during the repolarization phase of an action potential.