rs80356482

Orientation

plus

Stabilized

plus

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

Make rs80356482(C;C)

Make rs80356482(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42909418

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs80356482
dbSNP (classic)	rs80356482
ClinGen	rs80356482
ebi	rs80356482
HLI	rs80356482
Exac	rs80356482
Gnomad	rs80356482
Varsome	rs80356482
LitVar	rs80356482
Map	rs80356482
PheGenI	rs80356482
Biobank	rs80356482
1000 genomes	rs80356482
hgdp	rs80356482
ensembl	rs80356482
geneview	rs80356482
scholar	rs80356482
google	rs80356482
pharmgkb	rs80356482
gwascentral	rs80356482
openSNP	rs80356482
23andMe	rs80356482
SNPshot	rs80356482
SNPdbe	rs80356482
MSV3d	rs80356482
GWAS Ctlg	rs80356482

Max Magnitude

0

OMIM	232200
Desc
Variant	0012
Related	also

ClinVar
Risk	rs80356482(A;A) rs80356482(C;C)
Alt	rs80356482(A;A) rs80356482(C;C)
Reference	Rs80356482(G;G)
Significance	Pathogenic
Disease	not provided Glycogen storage disease type 1A
Variation	info
Gene	G6PC
CLNDBN	not provided Glycogen storage disease type 1A
Reversed	0
HGVS	NC_000017.10:g.41061435G>A; NC_000017.10:g.41061435G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000197003.3, RCV000012788.4,

[PMID 8733042] Mutation analysis in 24 French patients with glycogen storage disease type 1a.

[PMID 10960498] Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.