rs193922297

minus

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

Make rs193922297(C;C)

Make rs193922297(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44150990

Gene

GCK

is a	snp
is	mentioned by
dbSNP	rs193922297
dbSNP (classic)	rs193922297
ClinGen	rs193922297
ebi	rs193922297
HLI	rs193922297
Exac	rs193922297
Gnomad	rs193922297
Varsome	rs193922297
LitVar	rs193922297
Map	rs193922297
PheGenI	rs193922297
Biobank	rs193922297
1000 genomes	rs193922297
hgdp	rs193922297
ensembl	rs193922297
geneview	rs193922297
scholar	rs193922297
google	rs193922297
pharmgkb	rs193922297
gwascentral	rs193922297
openSNP	rs193922297
23andMe	rs193922297
SNPshot	rs193922297
SNPdbe	rs193922297
MSV3d	rs193922297
GWAS Ctlg	rs193922297

Max Magnitude

0

ClinVar
Risk	rs193922297(A;A) rs193922297(C;C)
Alt	rs193922297(A;A) rs193922297(C;C)
Reference	Rs193922297(T;T)
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.44190589A>G; NC_000007.13:g.44190589A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000029881.1, RCV000432293.1, RCV000117129.1,

[PMID 9472859] Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

[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 18271687] Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.