rs193922283
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922283(C;T) |
Make rs193922283(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 44145176 |
Gene | GCK |
is a | snp |
is | mentioned by |
dbSNP | rs193922283 |
dbSNP (classic) | rs193922283 |
ClinGen | rs193922283 |
ebi | rs193922283 |
HLI | rs193922283 |
Exac | rs193922283 |
Gnomad | rs193922283 |
Varsome | rs193922283 |
LitVar | rs193922283 |
Map | rs193922283 |
PheGenI | rs193922283 |
Biobank | rs193922283 |
1000 genomes | rs193922283 |
hgdp | rs193922283 |
ensembl | rs193922283 |
geneview | rs193922283 |
scholar | rs193922283 |
rs193922283 | |
pharmgkb | rs193922283 |
gwascentral | rs193922283 |
openSNP | rs193922283 |
23andMe | rs193922283 |
SNPshot | rs193922283 |
SNPdbe | rs193922283 |
MSV3d | rs193922283 |
GWAS Ctlg | rs193922283 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922283(T;T) |
Alt | rs193922283(T;T) |
Reference | Rs193922283(C;C) |
Significance | Probable-Pathogenic |
Disease | Maturity-onset diabetes of the young |
Variation | info |
Gene | GCK |
CLNDBN | Maturity-onset diabetes of the young, type 2 |
Reversed | 1 |
HGVS | NC_000007.13:g.44184775G>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029863.1, |
[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
[PMID 14517956] Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
[PMID 16731834] From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
[PMID 18382660] Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
[PMID 18399931] Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.