rs749323139

Orientation

plus

Stabilized

plus

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

Make rs749323139(-;-)

Make rs749323139(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

42911150

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs749323139
dbSNP (classic)	rs749323139
ClinGen	rs749323139
ebi	rs749323139
HLI	rs749323139
Exac	rs749323139
Gnomad	rs749323139
Varsome	rs749323139
LitVar	rs749323139
Map	rs749323139
PheGenI	rs749323139
Biobank	rs749323139
1000 genomes	rs749323139
hgdp	rs749323139
ensembl	rs749323139
geneview	rs749323139
scholar	rs749323139
google	rs749323139
pharmgkb	rs749323139
gwascentral	rs749323139
openSNP	rs749323139
23andMe	rs749323139
SNPshot	rs749323139
SNPdbe	rs749323139
MSV3d	rs749323139
GWAS Ctlg	rs749323139

Max Magnitude

0

ClinVar
Risk	rs749323139(-;-)
Alt	rs749323139(-;-)
Reference	Rs749323139(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.41063167delC
CLNSRC
CLNACC	RCV000411015.1,