rs193922254
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922254(-;-) |
Make rs193922254(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 44146479 |
Gene | GCK, LOC105375258 |
is a | snp |
is | mentioned by |
dbSNP | rs193922254 |
dbSNP (classic) | rs193922254 |
ClinGen | rs193922254 |
ebi | rs193922254 |
HLI | rs193922254 |
Exac | rs193922254 |
Gnomad | rs193922254 |
Varsome | rs193922254 |
LitVar | rs193922254 |
Map | rs193922254 |
PheGenI | rs193922254 |
Biobank | rs193922254 |
1000 genomes | rs193922254 |
hgdp | rs193922254 |
ensembl | rs193922254 |
geneview | rs193922254 |
scholar | rs193922254 |
rs193922254 | |
pharmgkb | rs193922254 |
gwascentral | rs193922254 |
openSNP | rs193922254 |
23andMe | rs193922254 |
SNPshot | rs193922254 |
SNPdbe | rs193922254 |
MSV3d | rs193922254 |
GWAS Ctlg | rs193922254 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922254(-;-) |
Alt | rs193922254(-;-) |
Reference | Rs193922254(G;G) |
Significance | Pathogenic |
Disease | Maturity-onset diabetes of the young not provided |
Variation | info |
Gene | GCK |
CLNDBN | Maturity-onset diabetes of the young, type 2 not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.44186078delC |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029829.1, RCV000255354.1, |