rs80356487

Orientation

plus

Stabilized

plus

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

Make rs80356487(C;T)

Make rs80356487(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42911391

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs80356487
dbSNP (classic)	rs80356487
ClinGen	rs80356487
ebi	rs80356487
HLI	rs80356487
Exac	rs80356487
Gnomad	rs80356487
Varsome	rs80356487
LitVar	rs80356487
Map	rs80356487
PheGenI	rs80356487
Biobank	rs80356487
1000 genomes	rs80356487
hgdp	rs80356487
ensembl	rs80356487
geneview	rs80356487
scholar	rs80356487
google	rs80356487
pharmgkb	rs80356487
gwascentral	rs80356487
openSNP	rs80356487
23andMe	rs80356487
SNPshot	rs80356487
SNPdbe	rs80356487
MSV3d	rs80356487
GWAS Ctlg	rs80356487

GMAF

0.0009183

Max Magnitude

0

OMIM	232200
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80356487(G;G) rs80356487(T;T)
Alt	rs80356487(G;G) rs80356487(T;T)
Reference	Rs80356487(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease type 1A not provided
Variation	info
Gene	G6PC
CLNDBN	Glycogen storage disease type 1A not provided
Reversed	0
HGVS	NC_000017.10:g.41063408C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012780.4, RCV000199372.3,

[PMID 7573034] Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

[PMID 8182131] Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.