rs193922283

minus

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

Make rs193922283(C;T)

Make rs193922283(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44145176

Gene

GCK

is a	snp
is	mentioned by
dbSNP	rs193922283
dbSNP (classic)	rs193922283
ClinGen	rs193922283
ebi	rs193922283
HLI	rs193922283
Exac	rs193922283
Gnomad	rs193922283
Varsome	rs193922283
LitVar	rs193922283
Map	rs193922283
PheGenI	rs193922283
Biobank	rs193922283
1000 genomes	rs193922283
hgdp	rs193922283
ensembl	rs193922283
geneview	rs193922283
scholar	rs193922283
google	rs193922283
pharmgkb	rs193922283
gwascentral	rs193922283
openSNP	rs193922283
23andMe	rs193922283
SNPshot	rs193922283
SNPdbe	rs193922283
MSV3d	rs193922283
GWAS Ctlg	rs193922283

Max Magnitude

0

ClinVar
Risk	rs193922283(T;T)
Alt	rs193922283(T;T)
Reference	Rs193922283(C;C)
Significance	Probable-Pathogenic
Disease	Maturity-onset diabetes of the young
Variation	info
Gene	GCK
CLNDBN	Maturity-onset diabetes of the young, type 2
Reversed	1
HGVS	NC_000007.13:g.44184775G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029863.1,

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

[PMID 14517956] Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

[PMID 16731834] From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

[PMID 18382660 ] Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

[PMID 18399931] Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.