rs193929373
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193929373(A;A) |
Make rs193929373(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 44147723 |
Gene | GCK, LOC105375258 |
is a | snp |
is | mentioned by |
dbSNP | rs193929373 |
dbSNP (classic) | rs193929373 |
ClinGen | rs193929373 |
ebi | rs193929373 |
HLI | rs193929373 |
Exac | rs193929373 |
Gnomad | rs193929373 |
Varsome | rs193929373 |
LitVar | rs193929373 |
Map | rs193929373 |
PheGenI | rs193929373 |
Biobank | rs193929373 |
1000 genomes | rs193929373 |
hgdp | rs193929373 |
ensembl | rs193929373 |
geneview | rs193929373 |
scholar | rs193929373 |
rs193929373 | |
pharmgkb | rs193929373 |
gwascentral | rs193929373 |
openSNP | rs193929373 |
23andMe | rs193929373 |
SNPshot | rs193929373 |
SNPdbe | rs193929373 |
MSV3d | rs193929373 |
GWAS Ctlg | rs193929373 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193929373(A;A) |
Alt | rs193929373(A;A) |
Reference | Rs193929373(G;G) |
Significance | Pathogenic |
Disease | Permanent neonatal diabetes mellitus |
Variation | info |
Gene | GCK |
CLNDBN | Permanent neonatal diabetes mellitus |
Reversed | 1 |
HGVS | NC_000007.13:g.44187322C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020168.1, |
[PMID 14578306] Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.