rs193929375

Orientation

minus

Stabilized

minus

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

Make rs193929375(G;T)

Make rs193929375(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44145560

Gene

GCK

is a	snp
is	mentioned by
dbSNP	rs193929375
dbSNP (classic)	rs193929375
ClinGen	rs193929375
ebi	rs193929375
HLI	rs193929375
Exac	rs193929375
Gnomad	rs193929375
Varsome	rs193929375
LitVar	rs193929375
Map	rs193929375
PheGenI	rs193929375
Biobank	rs193929375
1000 genomes	rs193929375
hgdp	rs193929375
ensembl	rs193929375
geneview	rs193929375
scholar	rs193929375
google	rs193929375
pharmgkb	rs193929375
gwascentral	rs193929375
openSNP	rs193929375
23andMe	rs193929375
SNPshot	rs193929375
SNPdbe	rs193929375
MSV3d	rs193929375
GWAS Ctlg	rs193929375

Max Magnitude

0

ClinVar
Risk	rs193929375(T;T)
Alt	rs193929375(T;T)
Reference	Rs193929375(G;G)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	GCK
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000007.13:g.44185159C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020166.1,

[PMID 15644838] Permanent neonatal diabetes in an Asian infant.