rs137852676

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
google	rs137852676
pharmgkb	rs137852676
gwascentral	rs137852676
openSNP	rs137852676
23andMe	rs137852676
SNPshot	rs137852676
SNPdbe	rs137852676
MSV3d	rs137852676
GWAS Ctlg	rs137852676

Max Magnitude

0

OMIM	600509
Desc
Variant	0025
Related	also

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.