rs137853588

Orientation

plus

Stabilized

plus

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

Make rs137853588(A;A)

Make rs137853588(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

30756191

Gene

PHKG2

is a	snp
is	mentioned by
dbSNP	rs137853588
dbSNP (classic)	rs137853588
ClinGen	rs137853588
ebi	rs137853588
HLI	rs137853588
Exac	rs137853588
Gnomad	rs137853588
Varsome	rs137853588
LitVar	rs137853588
Map	rs137853588
PheGenI	rs137853588
Biobank	rs137853588
1000 genomes	rs137853588
hgdp	rs137853588
ensembl	rs137853588
geneview	rs137853588
scholar	rs137853588
google	rs137853588
pharmgkb	rs137853588
gwascentral	rs137853588
openSNP	rs137853588
23andMe	rs137853588
SNPshot	rs137853588
SNPdbe	rs137853588
MSV3d	rs137853588
GWAS Ctlg	rs137853588

Max Magnitude

0

OMIM	172471
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853588(A;A)
Alt	rs137853588(A;A)
Reference	Rs137853588(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease IXc
Variation	info
Gene	PHKG2
CLNDBN	Glycogen storage disease IXc
Reversed	0
HGVS	NC_000016.9:g.30767512G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014596.26,