rs104894565

Orientation

plus

Stabilized

plus

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

Make rs104894565(A;T)

Make rs104894565(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42900989

Gene

G6PC

is a	snp
is	mentioned by
dbSNP	rs104894565
dbSNP (classic)	rs104894565
ClinGen	rs104894565
ebi	rs104894565
HLI	rs104894565
Exac	rs104894565
Gnomad	rs104894565
Varsome	rs104894565
LitVar	rs104894565
Map	rs104894565
PheGenI	rs104894565
Biobank	rs104894565
1000 genomes	rs104894565
hgdp	rs104894565
ensembl	rs104894565
geneview	rs104894565
scholar	rs104894565
google	rs104894565
pharmgkb	rs104894565
gwascentral	rs104894565
openSNP	rs104894565
23andMe	rs104894565
SNPshot	rs104894565
SNPdbe	rs104894565
MSV3d	rs104894565
GWAS Ctlg	rs104894565

Max Magnitude

0

OMIM	232200
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894565(T;T)
Alt	rs104894565(T;T)
Reference	Rs104894565(A;A)
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.41053006A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012784.3,