rs80356616
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80356616(A;A) |
Make rs80356616(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17387917 |
Gene | KCNJ11 |
is a | snp |
is | mentioned by |
dbSNP | rs80356616 |
dbSNP (classic) | rs80356616 |
ClinGen | rs80356616 |
ebi | rs80356616 |
HLI | rs80356616 |
Exac | rs80356616 |
Gnomad | rs80356616 |
Varsome | rs80356616 |
LitVar | rs80356616 |
Map | rs80356616 |
PheGenI | rs80356616 |
Biobank | rs80356616 |
1000 genomes | rs80356616 |
hgdp | rs80356616 |
ensembl | rs80356616 |
geneview | rs80356616 |
scholar | rs80356616 |
rs80356616 | |
pharmgkb | rs80356616 |
gwascentral | rs80356616 |
openSNP | rs80356616 |
23andMe | rs80356616 |
SNPshot | rs80356616 |
SNPdbe | rs80356616 |
MSV3d | rs80356616 |
GWAS Ctlg | rs80356616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356616(A;A) |
Alt | rs80356616(A;A) |
Reference | Rs80356616(G;G) |
Significance | Pathogenic |
Disease | Diabetes mellitus Permanent neonatal diabetes mellitus Neonatal insulin-dependent diabetes mellitus |
Variation | info |
Gene | KCNJ11 |
CLNDBN | Diabetes mellitus, permanent neonatal, with neurologic features Permanent neonatal diabetes mellitus Neonatal insulin-dependent diabetes mellitus |
Reversed | 1 |
HGVS | NC_000011.9:g.17409464C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009201.5, RCV000030665.4, RCV000146104.1, |
[PMID 15115830] Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
[PMID 15580558] KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
[PMID 15583126] Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
[PMID 16123337] Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
[PMID 16670688] KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.