rs104894568

Orientation

plus

Stabilized

plus

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

Make rs104894568(A;A)

Make rs104894568(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42907552

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs104894568
dbSNP (classic)	rs104894568
ClinGen	rs104894568
ebi	rs104894568
HLI	rs104894568
Exac	rs104894568
Gnomad	rs104894568
Varsome	rs104894568
LitVar	rs104894568
Map	rs104894568
PheGenI	rs104894568
Biobank	rs104894568
1000 genomes	rs104894568
hgdp	rs104894568
ensembl	rs104894568
geneview	rs104894568
scholar	rs104894568
google	rs104894568
pharmgkb	rs104894568
gwascentral	rs104894568
openSNP	rs104894568
23andMe	rs104894568
SNPshot	rs104894568
SNPdbe	rs104894568
MSV3d	rs104894568
GWAS Ctlg	rs104894568

Max Magnitude

0

OMIM	232200
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894568(A;A)
Alt	rs104894568(A;A)
Reference	Rs104894568(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.41059569G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012786.3,