rs1057517227

Orientation

plus

Stabilized

plus

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

Make rs1057517227(-;-)

Make rs1057517227(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

42901012

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs1057517227
dbSNP (classic)	rs1057517227
ClinGen	rs1057517227
ebi	rs1057517227
HLI	rs1057517227
Exac	rs1057517227
Gnomad	rs1057517227
Varsome	rs1057517227
LitVar	rs1057517227
Map	rs1057517227
PheGenI	rs1057517227
Biobank	rs1057517227
1000 genomes	rs1057517227
hgdp	rs1057517227
ensembl	rs1057517227
geneview	rs1057517227
scholar	rs1057517227
google	rs1057517227
pharmgkb	rs1057517227
gwascentral	rs1057517227
openSNP	rs1057517227
23andMe	rs1057517227
SNPshot	rs1057517227
SNPdbe	rs1057517227
MSV3d	rs1057517227
GWAS Ctlg	rs1057517227

Max Magnitude

0

ClinVar
Risk	rs1057517227(-;-)
Alt	rs1057517227(-;-)
Reference	Rs1057517227(C;C)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease type 1A
Variation	info
Gene	G6PC
CLNDBN	Glycogen storage disease type 1A
Reversed	0
HGVS	NC_000017.10:g.41053029delC
CLNSRC
CLNACC	RCV000411233.1,