rs193922338
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193922338(A;A) |
Make rs193922338(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 44146538 |
Gene | GCK, LOC105375258 |
is a | snp |
is | mentioned by |
dbSNP | rs193922338 |
dbSNP (classic) | rs193922338 |
ClinGen | rs193922338 |
ebi | rs193922338 |
HLI | rs193922338 |
Exac | rs193922338 |
Gnomad | rs193922338 |
Varsome | rs193922338 |
LitVar | rs193922338 |
Map | rs193922338 |
PheGenI | rs193922338 |
Biobank | rs193922338 |
1000 genomes | rs193922338 |
hgdp | rs193922338 |
ensembl | rs193922338 |
geneview | rs193922338 |
scholar | rs193922338 |
rs193922338 | |
pharmgkb | rs193922338 |
gwascentral | rs193922338 |
openSNP | rs193922338 |
23andMe | rs193922338 |
SNPshot | rs193922338 |
SNPdbe | rs193922338 |
MSV3d | rs193922338 |
GWAS Ctlg | rs193922338 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922338(A;A) |
Alt | rs193922338(A;A) |
Reference | Rs193922338(T;T) |
Significance | 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.44186137A>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029929.1, |
[PMID 16602010] Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.
[PMID 17204055] Six novel mutations in the GCK gene in MODY patients.
[PMID 20337973] Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.