rs137852676
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137852676(A;A) |
Make rs137852676(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 17395852 |
Gene | ABCC8 |
is a | snp |
is | mentioned by |
dbSNP | rs137852676 |
dbSNP (classic) | rs137852676 |
ClinGen | rs137852676 |
ebi | rs137852676 |
HLI | rs137852676 |
Exac | rs137852676 |
Gnomad | rs137852676 |
Varsome | rs137852676 |
LitVar | rs137852676 |
Map | rs137852676 |
PheGenI | rs137852676 |
Biobank | rs137852676 |
1000 genomes | rs137852676 |
hgdp | rs137852676 |
ensembl | rs137852676 |
geneview | rs137852676 |
scholar | rs137852676 |
rs137852676 | |
pharmgkb | rs137852676 |
gwascentral | rs137852676 |
openSNP | rs137852676 |
23andMe | rs137852676 |
SNPshot | rs137852676 |
SNPdbe | rs137852676 |
MSV3d | rs137852676 |
GWAS Ctlg | rs137852676 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852676(A;A) rs137852676(T;T) |
Alt | rs137852676(A;A) rs137852676(T;T) |
Reference | Rs137852676(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial hyperinsulinism Persistent hyperinsulinemic hypoglycemia of infancy |
Variation | info |
Gene | ABCC8 |
CLNDBN | Familial hyperinsulinism Persistent hyperinsulinemic hypoglycemia of infancy |
Reversed | 1 |
HGVS | NC_000011.9:g.17417399C>T |
CLNSRC | Counsyl |
CLNACC | RCV000029263.1, RCV000169150.1, |
[PMID 16357] [Pharmacokinetics of glaphenine in subjects with normal renal function and in patients with chronic renal insufficiency].
[PMID 14715863] Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.
[PMID 17378627] Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
[PMID 17668386] Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
[PMID 18025408] Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
[PMID 18436707] Neonatal diabetes mellitus.