rs104894571

Orientation

plus

Stabilized

plus

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

Make rs104894571(G;G)

Make rs104894571(G;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42909353

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs104894571
dbSNP (classic)	rs104894571
ClinGen	rs104894571
ebi	rs104894571
HLI	rs104894571
Exac	rs104894571
Gnomad	rs104894571
Varsome	rs104894571
LitVar	rs104894571
Map	rs104894571
PheGenI	rs104894571
Biobank	rs104894571
1000 genomes	rs104894571
hgdp	rs104894571
ensembl	rs104894571
geneview	rs104894571
scholar	rs104894571
google	rs104894571
pharmgkb	rs104894571
gwascentral	rs104894571
openSNP	rs104894571
23andMe	rs104894571
SNPshot	rs104894571
SNPdbe	rs104894571
MSV3d	rs104894571
GWAS Ctlg	rs104894571

Max Magnitude

0

OMIM	232200
Desc
Variant	0014
Related	also

ClinVar
Risk	rs104894571(G;G)
Alt	rs104894571(G;G)
Reference	Rs104894571(T;T)
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.41061370T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012790.3,