rs144723656

Orientation

plus

Stabilized

plus

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

Make rs144723656(A;A)

Make rs144723656(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44149794

Gene	GCK, LOC105375258

is a	snp
is	mentioned by
dbSNP	rs144723656
dbSNP (classic)	rs144723656
ClinGen	rs144723656
ebi	rs144723656
HLI	rs144723656
Exac	rs144723656
Gnomad	rs144723656
Varsome	rs144723656
LitVar	rs144723656
Map	rs144723656
PheGenI	rs144723656
Biobank	rs144723656
1000 genomes	rs144723656
hgdp	rs144723656
ensembl	rs144723656
geneview	rs144723656
scholar	rs144723656
google	rs144723656
pharmgkb	rs144723656
gwascentral	rs144723656
openSNP	rs144723656
23andMe	rs144723656
SNPshot	rs144723656
SNPdbe	rs144723656
MSV3d	rs144723656
GWAS Ctlg	rs144723656

GMAF

0.007346

Max Magnitude

0

ClinVar
Risk	rs144723656(A;A) rs144723656(C;C)
Alt	rs144723656(A;A) rs144723656(C;C)
Reference	Rs144723656(G;G)
Significance	Pathogenic
Disease	not specified Maturity-onset diabetes of the young Transient Neonatal Diabetes Permanent neonatal diabetes mellitus Hyperinsulinism not provided Maturity-onset diabetes of the young
Variation	info
Gene	GCK
CLNDBN	not specified Maturity-onset diabetes of the young Transient Neonatal Diabetes, Recessive Permanent neonatal diabetes mellitus Hyperinsulinism, Dominant not provided Maturity-onset diabetes of the young, type 2
Reversed	0
HGVS	NC_000007.13:g.44189393G>A; NC_000007.13:g.44189393G>C
CLNSRC	ClinVar
CLNACC	RCV000246889.2, RCV000280005.1, RCV000337358.1, RCV000342725.1, RCV000394978.1, RCV000419746.1, RCV000029901.1, RCV000421286.1,

[PMID 10753050] A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

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

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