rs104894569

Orientation

plus

Stabilized

plus

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

Make rs104894569(A;A)

Make rs104894569(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42909407

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs104894569
dbSNP (classic)	rs104894569
ClinGen	rs104894569
ebi	rs104894569
HLI	rs104894569
Exac	rs104894569
Gnomad	rs104894569
Varsome	rs104894569
LitVar	rs104894569
Map	rs104894569
PheGenI	rs104894569
Biobank	rs104894569
1000 genomes	rs104894569
hgdp	rs104894569
ensembl	rs104894569
geneview	rs104894569
scholar	rs104894569
google	rs104894569
pharmgkb	rs104894569
gwascentral	rs104894569
openSNP	rs104894569
23andMe	rs104894569
SNPshot	rs104894569
SNPdbe	rs104894569
MSV3d	rs104894569
GWAS Ctlg	rs104894569

Max Magnitude

0

OMIM	232200
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894569(A;A) rs104894569(T;T)
Alt	rs104894569(A;A) rs104894569(T;T)
Reference	Rs104894569(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.41061424G>A; NC_000017.10:g.41061424G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012787.3, RCV000415061.1,