rs104894563

Orientation

plus

Stabilized

plus

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

Make rs104894563(C;T)

Make rs104894563(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42911235

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs104894563
dbSNP (classic)	rs104894563
ClinGen	rs104894563
ebi	rs104894563
HLI	rs104894563
Exac	rs104894563
Gnomad	rs104894563
Varsome	rs104894563
LitVar	rs104894563
Map	rs104894563
PheGenI	rs104894563
Biobank	rs104894563
1000 genomes	rs104894563
hgdp	rs104894563
ensembl	rs104894563
geneview	rs104894563
scholar	rs104894563
google	rs104894563
pharmgkb	rs104894563
gwascentral	rs104894563
openSNP	rs104894563
23andMe	rs104894563
SNPshot	rs104894563
SNPdbe	rs104894563
MSV3d	rs104894563
GWAS Ctlg	rs104894563

Max Magnitude

0

OMIM	232200
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894563(T;T)
Alt	rs104894563(T;T)
Reference	Rs104894563(C;C)
Significance	Other
Disease	Glycogen storage disease type 1A Glycogen storage disease
Variation	info
Gene	G6PC
CLNDBN	Glycogen storage disease type 1A Glycogen storage disease, type I
Reversed	0
HGVS	NC_000017.10:g.41063252C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012779.5, RCV000331923.1,