rs1057516367

Orientation

plus

Stabilized

plus

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

Make rs1057516367(C;T)

Make rs1057516367(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

42900955

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs1057516367
dbSNP (classic)	rs1057516367
ClinGen	rs1057516367
ebi	rs1057516367
HLI	rs1057516367
Exac	rs1057516367
Gnomad	rs1057516367
Varsome	rs1057516367
LitVar	rs1057516367
Map	rs1057516367
PheGenI	rs1057516367
Biobank	rs1057516367
1000 genomes	rs1057516367
hgdp	rs1057516367
ensembl	rs1057516367
geneview	rs1057516367
scholar	rs1057516367
google	rs1057516367
pharmgkb	rs1057516367
gwascentral	rs1057516367
openSNP	rs1057516367
23andMe	rs1057516367
SNPshot	rs1057516367
SNPdbe	rs1057516367
MSV3d	rs1057516367
GWAS Ctlg	rs1057516367

Max Magnitude

0

ClinVar
Risk	rs1057516367(T;T)
Alt	rs1057516367(T;T)
Reference	Rs1057516367(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.41052972C>T
CLNSRC
CLNACC	RCV000410536.1,