rs104894567

Orientation

plus

Stabilized

plus

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

Make rs104894567(A;A)

Make rs104894567(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42904028

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs104894567
dbSNP (classic)	rs104894567
ClinGen	rs104894567
ebi	rs104894567
HLI	rs104894567
Exac	rs104894567
Gnomad	rs104894567
Varsome	rs104894567
LitVar	rs104894567
Map	rs104894567
PheGenI	rs104894567
Biobank	rs104894567
1000 genomes	rs104894567
hgdp	rs104894567
ensembl	rs104894567
geneview	rs104894567
scholar	rs104894567
google	rs104894567
pharmgkb	rs104894567
gwascentral	rs104894567
openSNP	rs104894567
23andMe	rs104894567
SNPshot	rs104894567
SNPdbe	rs104894567
MSV3d	rs104894567
GWAS Ctlg	rs104894567

Max Magnitude

0

OMIM	232200
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894567(A;A)
Alt	rs104894567(A;A)
Reference	Rs104894567(G;G)
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.41056045G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012785.3,