rs104894034

Orientation

minus

Stabilized

minus

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

Make rs104894034(C;T)

Make rs104894034(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

44065262

Gene

PGAM2

is a	snp
is	mentioned by
dbSNP	rs104894034
dbSNP (classic)	rs104894034
ClinGen	rs104894034
ebi	rs104894034
HLI	rs104894034
Exac	rs104894034
Gnomad	rs104894034
Varsome	rs104894034
LitVar	rs104894034
Map	rs104894034
PheGenI	rs104894034
Biobank	rs104894034
1000 genomes	rs104894034
hgdp	rs104894034
ensembl	rs104894034
geneview	rs104894034
scholar	rs104894034
google	rs104894034
pharmgkb	rs104894034
gwascentral	rs104894034
openSNP	rs104894034
23andMe	rs104894034
SNPshot	rs104894034
SNPdbe	rs104894034
MSV3d	rs104894034
GWAS Ctlg	rs104894034

GMAF

0.0

Max Magnitude

0

OMIM	612931
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894034(T;T)
Alt	rs104894034(T;T)
Reference	Rs104894034(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease type X not specified
Variation	info
Gene	PGAM2
CLNDBN	Glycogen storage disease type X not specified
Reversed	1
HGVS	NC_000007.13:g.44104861G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000448.2, RCV000272130.1,