rs80356654

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	2	associated with MODY2; maturity onset of diabetes in the young (type 2)
(T;T)	0	common in clinvar

Make rs80356654(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44149810

Gene	GCK, LOC105375258

is a	snp
is	mentioned by
dbSNP	rs80356654
dbSNP (classic)	rs80356654
ClinGen	rs80356654
ebi	rs80356654
HLI	rs80356654
Exac	rs80356654
Gnomad	rs80356654
Varsome	rs80356654
LitVar	rs80356654
Map	rs80356654
PheGenI	rs80356654
Biobank	rs80356654
1000 genomes	rs80356654
hgdp	rs80356654
ensembl	rs80356654
geneview	rs80356654
scholar	rs80356654
google	rs80356654
pharmgkb	rs80356654
gwascentral	rs80356654
openSNP	rs80356654
23andMe	rs80356654
SNPshot	rs80356654
SNPdbe	rs80356654
MSV3d	rs80356654
GWAS Ctlg	rs80356654

Max Magnitude

2

OMIM	138079
Desc
Variant	0010
Related	also

ClinVar
Risk	rs80356654(A;A)
Alt	rs80356654(A;A)
Reference	Rs80356654(T;T)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus Maturity-onset diabetes of the young
Variation	info
Gene	GCK
CLNDBN	Permanent neonatal diabetes mellitus Maturity-onset diabetes of the young, type 2
Reversed	1
HGVS	NC_000007.13:g.44189409A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017521.29, RCV000190348.2,

[PMID 11372010] Neonatal diabetes mellitus due to complete glucokinase deficiency.