rs80356622

Orientation

minus

Stabilized

minus

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

Make rs80356622(C;C)

Make rs80356622(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387582

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs80356622
dbSNP (classic)	rs80356622
ClinGen	rs80356622
ebi	rs80356622
HLI	rs80356622
Exac	rs80356622
Gnomad	rs80356622
Varsome	rs80356622
LitVar	rs80356622
Map	rs80356622
PheGenI	rs80356622
Biobank	rs80356622
1000 genomes	rs80356622
hgdp	rs80356622
ensembl	rs80356622
geneview	rs80356622
scholar	rs80356622
google	rs80356622
pharmgkb	rs80356622
gwascentral	rs80356622
openSNP	rs80356622
23andMe	rs80356622
SNPshot	rs80356622
SNPdbe	rs80356622
MSV3d	rs80356622
GWAS Ctlg	rs80356622

Max Magnitude

0

OMIM	600937
Desc
Variant	0008
Related	also

ClinVar
Risk	rs80356622(C;C)
Alt	rs80356622(C;C)
Reference	Rs80356622(G;G)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	KCNJ11
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17409129C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009207.4,

[PMID 15580558] KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.