rs1801176

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a glycogen storage disease Ia mutation
(G;G)	0	common in clinvar

Make rs1801176(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42903948

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs1801176
dbSNP (classic)	rs1801176
ClinGen	rs1801176
ebi	rs1801176
HLI	rs1801176
Exac	rs1801176
Gnomad	rs1801176
Varsome	rs1801176
LitVar	rs1801176
Map	rs1801176
PheGenI	rs1801176
Biobank	rs1801176
1000 genomes	rs1801176
hgdp	rs1801176
ensembl	rs1801176
geneview	rs1801176
scholar	rs1801176
google	rs1801176
pharmgkb	rs1801176
gwascentral	rs1801176
openSNP	rs1801176
23andMe	rs1801176
SNPshot	rs1801176
SNPdbe	rs1801176
MSV3d	rs1801176
GWAS Ctlg	rs1801176

Max Magnitude

3

aka c.248G>A (p.Arg83His or R83H)

OMIM	232200
Desc
Variant	0013
Related	also

ClinVar
Risk	rs1801176(A;A)
Alt	rs1801176(A;A)
Reference	Rs1801176(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease type 1A
Variation	info
Gene	G6PC
CLNDBN	Glycogen storage disease type 1A
Reversed	0
HGVS	NC_000017.10:g.41055965G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020132.2,

[PMID 9001800] Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.