rs80356617

Orientation

minus

Stabilized

minus

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

Make rs80356617(G;G)

Make rs80356617(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387916

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs80356617
dbSNP (classic)	rs80356617
ClinGen	rs80356617
ebi	rs80356617
HLI	rs80356617
Exac	rs80356617
Gnomad	rs80356617
Varsome	rs80356617
LitVar	rs80356617
Map	rs80356617
PheGenI	rs80356617
Biobank	rs80356617
1000 genomes	rs80356617
hgdp	rs80356617
ensembl	rs80356617
geneview	rs80356617
scholar	rs80356617
google	rs80356617
pharmgkb	rs80356617
gwascentral	rs80356617
openSNP	rs80356617
23andMe	rs80356617
SNPshot	rs80356617
SNPdbe	rs80356617
MSV3d	rs80356617
GWAS Ctlg	rs80356617

Max Magnitude

0

OMIM	600937
Desc
Variant	0005
Related	also

ClinVar
Risk	rs80356617(G;G)
Alt	rs80356617(G;G)
Reference	Rs80356617(T;T)
Significance	Pathogenic
Disease	Diabetes mellitus Permanent neonatal diabetes mellitus
Variation	info
Gene	KCNJ11
CLNDBN	Diabetes mellitus, permanent neonatal, with neurologic features Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17409463A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009204.4, RCV000020350.1,

[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.