rs193922316
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922316(A;A) |
Make rs193922316(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 44149780 |
Gene | GCK, LOC105375258 |
is a | snp |
is | mentioned by |
dbSNP | rs193922316 |
dbSNP (classic) | rs193922316 |
ClinGen | rs193922316 |
ebi | rs193922316 |
HLI | rs193922316 |
Exac | rs193922316 |
Gnomad | rs193922316 |
Varsome | rs193922316 |
LitVar | rs193922316 |
Map | rs193922316 |
PheGenI | rs193922316 |
Biobank | rs193922316 |
1000 genomes | rs193922316 |
hgdp | rs193922316 |
ensembl | rs193922316 |
geneview | rs193922316 |
scholar | rs193922316 |
rs193922316 | |
pharmgkb | rs193922316 |
gwascentral | rs193922316 |
openSNP | rs193922316 |
23andMe | rs193922316 |
SNPshot | rs193922316 |
SNPdbe | rs193922316 |
MSV3d | rs193922316 |
GWAS Ctlg | rs193922316 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922316(A;A) |
Alt | rs193922316(A;A) |
Reference | Rs193922316(G;G) |
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.44189379C>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029903.1, |
[PMID 15102714] A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.
[PMID 19790256] Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.