rs3749034
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs3749034(C;T) |
Make rs3749034(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 170816965 |
Gene | GAD1 |
is a | snp |
is | mentioned by |
dbSNP | rs3749034 |
dbSNP (classic) | rs3749034 |
ClinGen | rs3749034 |
ebi | rs3749034 |
HLI | rs3749034 |
Exac | rs3749034 |
Gnomad | rs3749034 |
Varsome | rs3749034 |
LitVar | rs3749034 |
Map | rs3749034 |
PheGenI | rs3749034 |
Biobank | rs3749034 |
1000 genomes | rs3749034 |
hgdp | rs3749034 |
ensembl | rs3749034 |
geneview | rs3749034 |
scholar | rs3749034 |
rs3749034 | |
pharmgkb | rs3749034 |
gwascentral | rs3749034 |
openSNP | rs3749034 |
23andMe | rs3749034 |
SNPshot | rs3749034 |
SNPdbe | rs3749034 |
MSV3d | rs3749034 |
GWAS Ctlg | rs3749034 |
GMAF | 0.1814 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 21795557] Expression of GABA Signaling Molecules KCC2, NKCC1, and GAD1 in Cortical Development and Schizophrenia
[PMID 22662185] Gender Differences in Associations of Glutamate Decarboxylase 1 Gene (GAD1) Variants with Panic Disorder
[PMID 18837046] Studies of gamma-aminobutyric acid type A receptor beta3 (GABRB3) and glutamic acid decarboxylase 67 (GAD67) with oral clefts.
[PMID 22564729] Polymorphisms in the glutamate decarboxylase 1 gene associated with heroin dependence.
[PMID 23566421] Genetic variation in GAD1 is associated with cortical thickness in the parahippocampal gyrus
[PMID 28485403] GAD1 alternative transcripts and DNA methylation in human prefrontal cortex and hippocampus in brain development, schizophrenia.
ClinVar | |
---|---|
Risk | rs3749034(T;T) |
Alt | rs3749034(T;T) |
Reference | Rs3749034(C;C) |
Significance | Non-pathogenic |
Disease | Cerebral palsy spastic quadriplegic |
Variation | info |
Gene | GAD1 |
CLNDBN | Cerebral palsy spastic quadriplegic |
Reversed | 1 |
HGVS | NC_000002.11:g.171673475G>A |
CLNSRC | |
CLNACC | RCV000408329.1, |
[PMID 28710909] Evaluation of the interaction between genetic variants of GAD1 and miRNA in bipolar disorders.
[PMID 31291233] Association of Neuropeptide S Receptor 1 and Glutamate Decarboxylase 1 Gene Polymorphisms with Posttraumatic Stress Disorder.