rs80356621

Orientation

minus

Stabilized

minus

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

Make rs80356621(A;G)

Make rs80356621(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17387583

Gene

KCNJ11

is a	snp
is	mentioned by
dbSNP	rs80356621
dbSNP (classic)	rs80356621
ClinGen	rs80356621
ebi	rs80356621
HLI	rs80356621
Exac	rs80356621
Gnomad	rs80356621
Varsome	rs80356621
LitVar	rs80356621
Map	rs80356621
PheGenI	rs80356621
Biobank	rs80356621
1000 genomes	rs80356621
hgdp	rs80356621
ensembl	rs80356621
geneview	rs80356621
scholar	rs80356621
google	rs80356621
pharmgkb	rs80356621
gwascentral	rs80356621
openSNP	rs80356621
23andMe	rs80356621
SNPshot	rs80356621
SNPdbe	rs80356621
MSV3d	rs80356621
GWAS Ctlg	rs80356621

Max Magnitude

0

OMIM	600937
Desc
Variant	0007
Related	also

ClinVar
Risk	rs80356621(G;G)
Alt	rs80356621(G;G)
Reference	Rs80356621(A;A)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	KCNJ11
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17409130T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009206.4,

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