rs104894005

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	2	associated with MODY2; maturity onset of diabetes in the young (type 2)

Make rs104894005(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44147678

Gene	GCK, LOC105375258

is a	snp
is	mentioned by
dbSNP	rs104894005
dbSNP (classic)	rs104894005
ClinGen	rs104894005
ebi	rs104894005
HLI	rs104894005
Exac	rs104894005
Gnomad	rs104894005
Varsome	rs104894005
LitVar	rs104894005
Map	rs104894005
PheGenI	rs104894005
Biobank	rs104894005
1000 genomes	rs104894005
hgdp	rs104894005
ensembl	rs104894005
geneview	rs104894005
scholar	rs104894005
google	rs104894005
pharmgkb	rs104894005
gwascentral	rs104894005
openSNP	rs104894005
23andMe	rs104894005
SNPshot	rs104894005
SNPdbe	rs104894005
MSV3d	rs104894005
GWAS Ctlg	rs104894005

GMAF

0.0004591

Max Magnitude

2

OMIM	138079
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894005(A;A) rs104894005(C;C) rs104894005(T;T)
Alt	rs104894005(A;A) rs104894005(C;C) rs104894005(T;T)
Reference	Rs104894005(G;G)
Significance	Pathogenic
Disease	Maturity-onset diabetes of the young not specified
Variation	info
Gene	GCK
CLNDBN	Maturity-onset diabetes of the young, type 2 not specified
Reversed	1
HGVS	NC_000007.13:g.44187277C>A; NC_000007.13:g.44187277C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017512.28, RCV000194319.1,