rs80356620

Orientation

minus

Stabilized

minus

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

Make rs80356620(A;C)

Make rs80356620(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387593

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs80356620
dbSNP (classic)	rs80356620
ClinGen	rs80356620
ebi	rs80356620
HLI	rs80356620
Exac	rs80356620
Gnomad	rs80356620
Varsome	rs80356620
LitVar	rs80356620
Map	rs80356620
PheGenI	rs80356620
Biobank	rs80356620
1000 genomes	rs80356620
hgdp	rs80356620
ensembl	rs80356620
geneview	rs80356620
scholar	rs80356620
google	rs80356620
pharmgkb	rs80356620
gwascentral	rs80356620
openSNP	rs80356620
23andMe	rs80356620
SNPshot	rs80356620
SNPdbe	rs80356620
MSV3d	rs80356620
GWAS Ctlg	rs80356620

Max Magnitude

0

OMIM	600937
Desc
Variant	0016
Related	also

ClinVar
Risk	rs80356620(C;C)
Alt	rs80356620(C;C)
Reference	Rs80356620(A;A)
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.17409140T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009217.4, RCV000020353.1,

[PMID 17652641] A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.