rs193929349
Merged into | rs80356624 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193929349(A;A) |
Make rs193929349(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17387490 |
Gene | KCNJ11 |
is a | snp |
is | mentioned by |
dbSNP | rs193929349 |
dbSNP (classic) | rs193929349 |
ClinGen | rs193929349 |
ebi | rs193929349 |
HLI | rs193929349 |
Exac | rs193929349 |
Gnomad | rs193929349 |
Varsome | rs193929349 |
LitVar | rs193929349 |
Map | rs193929349 |
PheGenI | rs193929349 |
Biobank | rs193929349 |
1000 genomes | rs193929349 |
hgdp | rs193929349 |
ensembl | rs193929349 |
geneview | rs193929349 |
scholar | rs193929349 |
rs193929349 | |
pharmgkb | rs193929349 |
gwascentral | rs193929349 |
openSNP | rs193929349 |
23andMe | rs193929349 |
SNPshot | rs193929349 |
SNPdbe | rs193929349 |
MSV3d | rs193929349 |
GWAS Ctlg | rs193929349 |
Status | Merged into rs80356624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193929349(A;A) |
Alt | rs193929349(A;A) |
Reference | Rs193929349(G;G) |
Significance | Pathogenic |
Disease | Permanent neonatal diabetes mellitus Transient neonatal diabetes mellitus 3 |
Variation | info |
Gene | |
CLNDBN | Permanent neonatal diabetes mellitus Transient neonatal diabetes mellitus 3 |
Reversed | 1 |
HGVS | NC_000011.9:g.17409037C>T |
CLNSRC | OMIM Allelic Variant GeneReviews |
CLNACC | SCV000029415.1, SCV000029415.1, SCV000029417.1, SCV000029417.1, SCV000040738.1, SCV000040738.1, |
[PMID 16670] The effect of birth on the maturation of hepatic cytochrome(s) P-450 mono-oxygenase and tyrosine aminotransferase activities in the guinea pig.
[PMID 12524280] Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
[PMID 15115830] Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and 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 16416420] Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.