rs193922289

minus

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

Make rs193922289(A;A)

Make rs193922289(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44152420

Gene

GCK

is a	snp
is	mentioned by
dbSNP	rs193922289
dbSNP (classic)	rs193922289
ClinGen	rs193922289
ebi	rs193922289
HLI	rs193922289
Exac	rs193922289
Gnomad	rs193922289
Varsome	rs193922289
LitVar	rs193922289
Map	rs193922289
PheGenI	rs193922289
Biobank	rs193922289
1000 genomes	rs193922289
hgdp	rs193922289
ensembl	rs193922289
geneview	rs193922289
scholar	rs193922289
google	rs193922289
pharmgkb	rs193922289
gwascentral	rs193922289
openSNP	rs193922289
23andMe	rs193922289
23andMe all	rs193922289
SNPshot	rs193922289
SNPdbe	rs193922289
MSV3d	rs193922289
GWAS Ctlg	rs193922289

Max Magnitude

0

ClinVar
Risk	rs193922289(A;A)
Alt	rs193922289(A;A)
Reference	Rs193922289(G;G)
Significance	Pathogenic
Disease	Maturity-onset diabetes of the young not provided
Variation	info
Gene	GCK
CLNDBN	Maturity-onset diabetes of the young, type 2 not provided
Reversed	1
HGVS	NC_000007.13:g.44192019C>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029872.1, RCV000255585.1,

[PMID 18399] The biochemistry of the uptake, storage, and release of catecholamines.

[PMID 12955723] Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.

[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

[PMID 17389332] Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.

[PMID 18481947] Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.

[PMID 19187021] Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.