rs121918022

Orientation

plus

Stabilized

plus

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

Make rs121918022(C;C)

Make rs121918022(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

47503037

Gene

PHKB

is a	snp
is	mentioned by
dbSNP	rs121918022
dbSNP (classic)	rs121918022
ClinGen	rs121918022
ebi	rs121918022
HLI	rs121918022
Exac	rs121918022
Gnomad	rs121918022
Varsome	rs121918022
LitVar	rs121918022
Map	rs121918022
PheGenI	rs121918022
Biobank	rs121918022
1000 genomes	rs121918022
hgdp	rs121918022
ensembl	rs121918022
geneview	rs121918022
scholar	rs121918022
google	rs121918022
pharmgkb	rs121918022
gwascentral	rs121918022
openSNP	rs121918022
23andMe	rs121918022
SNPshot	rs121918022
SNPdbe	rs121918022
MSV3d	rs121918022
GWAS Ctlg	rs121918022

Max Magnitude

0

OMIM	172490
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918022(C;C)
Alt	rs121918022(C;C)
Reference	Rs121918022(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease IXb
Variation	info
Gene	PHKB
CLNDBN	Glycogen storage disease IXb
Reversed	0
HGVS	NC_000016.9:g.47536948G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014592.21,