rs80356488

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(TAC;TAC)	0	common in clinvar

Make rs80356488(-;TA)

Make rs80356488(TA;TA)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42907562

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs80356488
dbSNP (classic)	rs80356488
ClinGen	rs80356488
ebi	rs80356488
HLI	rs80356488
Exac	rs80356488
Gnomad	rs80356488
Varsome	rs80356488
LitVar	rs80356488
Map	rs80356488
PheGenI	rs80356488
Biobank	rs80356488
1000 genomes	rs80356488
hgdp	rs80356488
ensembl	rs80356488
geneview	rs80356488
scholar	rs80356488
google	rs80356488
pharmgkb	rs80356488
gwascentral	rs80356488
openSNP	rs80356488
23andMe	rs80356488
SNPshot	rs80356488
SNPdbe	rs80356488
MSV3d	rs80356488
GWAS Ctlg	rs80356488

Merged from

Rs606231368

Max Magnitude

0

OMIM	232200
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80356488(AT;AT) rs80356488(TA;TA)
Alt	rs80356488(AT;AT) rs80356488(TA;TA)
Reference	Rs80356488(-;-)
Significance	Other
Disease	Glycogen storage disease type 1A Glycogen storage disease not provided
Variation	info
Gene	G6PC
CLNDBN	Glycogen storage disease type 1A Glycogen storage disease, type I not provided
Reversed	0
HGVS	NC_000017.10:g.41059578_41059579dupTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012777.4, RCV000365914.1, RCV000417779.1,

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

[PMID 8211187] Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.