rs80356625

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80356625(C;T)

Make rs80356625(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387491

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs80356625
dbSNP (classic)	rs80356625
ClinGen	rs80356625
ebi	rs80356625
HLI	rs80356625
Exac	rs80356625
Gnomad	rs80356625
Varsome	rs80356625
LitVar	rs80356625
Map	rs80356625
PheGenI	rs80356625
Biobank	rs80356625
1000 genomes	rs80356625
hgdp	rs80356625
ensembl	rs80356625
geneview	rs80356625
scholar	rs80356625
google	rs80356625
pharmgkb	rs80356625
gwascentral	rs80356625
openSNP	rs80356625
23andMe	rs80356625
SNPshot	rs80356625
SNPdbe	rs80356625
MSV3d	rs80356625
GWAS Ctlg	rs80356625

Max Magnitude

0

OMIM	600937
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80356625(T;T)
Alt	rs80356625(T;T)
Reference	Rs80356625(C;C)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus Diabetes mellitus Diabetes mellitus
Variation	info
Gene	KCNJ11
CLNDBN	Permanent neonatal diabetes mellitus Diabetes mellitus, permanent neonatal, with neurologic features Diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17409038G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009202.5, RCV000009203.5, RCV000146113.1,

[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 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.