rs104894566

Orientation

plus

Stabilized

plus

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

Make rs104894566(C;C)

Make rs104894566(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42901105

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs104894566
dbSNP (classic)	rs104894566
ClinGen	rs104894566
ebi	rs104894566
HLI	rs104894566
Exac	rs104894566
Gnomad	rs104894566
Varsome	rs104894566
LitVar	rs104894566
Map	rs104894566
PheGenI	rs104894566
Biobank	rs104894566
1000 genomes	rs104894566
hgdp	rs104894566
ensembl	rs104894566
geneview	rs104894566
scholar	rs104894566
google	rs104894566
pharmgkb	rs104894566
gwascentral	rs104894566
openSNP	rs104894566
23andMe	rs104894566
SNPshot	rs104894566
SNPdbe	rs104894566
MSV3d	rs104894566
GWAS Ctlg	rs104894566

Max Magnitude

0

OMIM	232200
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894566(C;C)
Alt	rs104894566(C;C)
Reference	Rs104894566(T;T)
Significance	Other
Disease	Glycogen storage disease type 1A
Variation	info
Gene	G6PC
CLNDBN	Glycogen storage disease type 1A
Reversed	0
HGVS	NC_000017.10:g.41053122T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012781.5,