rs137853590

Orientation

plus

Stabilized

plus

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

Make rs137853590(C;T)

Make rs137853590(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

30751140

Gene

PHKG2

is a	snp
is	mentioned by
dbSNP	rs137853590
dbSNP (classic)	rs137853590
ClinGen	rs137853590
ebi	rs137853590
HLI	rs137853590
Exac	rs137853590
Gnomad	rs137853590
Varsome	rs137853590
LitVar	rs137853590
Map	rs137853590
PheGenI	rs137853590
Biobank	rs137853590
1000 genomes	rs137853590
hgdp	rs137853590
ensembl	rs137853590
geneview	rs137853590
scholar	rs137853590
google	rs137853590
pharmgkb	rs137853590
gwascentral	rs137853590
openSNP	rs137853590
23andMe	rs137853590
SNPshot	rs137853590
SNPdbe	rs137853590
MSV3d	rs137853590
GWAS Ctlg	rs137853590

Max Magnitude

0

OMIM	172471
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137853590(T;T)
Alt	rs137853590(T;T)
Reference	Rs137853590(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease IXc
Variation	info
Gene	PHKG2
CLNDBN	Glycogen storage disease IXc
Reversed	0
HGVS	NC_000016.9:g.30762461C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014598.26,