rs104894012

Orientation

minus

Stabilized

minus

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

Make rs104894012(A;A)

Make rs104894012(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44145171

Gene

GCK

is a	snp
is	mentioned by
dbSNP	rs104894012
dbSNP (classic)	rs104894012
ClinGen	rs104894012
ebi	rs104894012
HLI	rs104894012
Exac	rs104894012
Gnomad	rs104894012
Varsome	rs104894012
LitVar	rs104894012
Map	rs104894012
PheGenI	rs104894012
Biobank	rs104894012
1000 genomes	rs104894012
hgdp	rs104894012
ensembl	rs104894012
geneview	rs104894012
scholar	rs104894012
google	rs104894012
pharmgkb	rs104894012
gwascentral	rs104894012
openSNP	rs104894012
23andMe	rs104894012
SNPshot	rs104894012
SNPdbe	rs104894012
MSV3d	rs104894012
GWAS Ctlg	rs104894012

Max Magnitude

0

OMIM	138079
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894012(A;A)
Alt	rs104894012(A;A)
Reference	Rs104894012(G;G)
Significance	Pathogenic
Disease	Hyperinsulinemic hypoglycemia familial 3
Variation	info
Gene	GCK
CLNDBN	Hyperinsulinemic hypoglycemia familial 3
Reversed	1
HGVS	NC_000007.13:g.44184770C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017520.27,