rs104894030

Orientation

minus

Stabilized

minus

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

Make rs104894030(A;C)

Make rs104894030(C;C)

Reference

GRCh38 38.1/142

Chromosome

7

Position

44065264

Gene

PGAM2

is a	snp
is	mentioned by
dbSNP	rs104894030
dbSNP (classic)	rs104894030
ClinGen	rs104894030
ebi	rs104894030
HLI	rs104894030
Exac	rs104894030
Gnomad	rs104894030
Varsome	rs104894030
LitVar	rs104894030
Map	rs104894030
PheGenI	rs104894030
Biobank	rs104894030
1000 genomes	rs104894030
hgdp	rs104894030
ensembl	rs104894030
geneview	rs104894030
scholar	rs104894030
google	rs104894030
pharmgkb	rs104894030
gwascentral	rs104894030
openSNP	rs104894030
23andMe	rs104894030
SNPshot	rs104894030
SNPdbe	rs104894030
MSV3d	rs104894030
GWAS Ctlg	rs104894030

Max Magnitude

0

OMIM	612931
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894030(C;C)
Alt	rs104894030(C;C)
Reference	Rs104894030(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease type X
Variation	info
Gene	PGAM2
CLNDBN	Glycogen storage disease type X
Reversed	1
HGVS	NC_000007.13:g.44104863T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000447.2,