rs199948078

Orientation

plus

Stabilized

plus

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

Make rs199948078(G;T)

Make rs199948078(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

47696411

Gene

PHKB

is a	snp
is	mentioned by
dbSNP	rs199948078
dbSNP (classic)	rs199948078
ClinGen	rs199948078
ebi	rs199948078
HLI	rs199948078
Exac	rs199948078
Gnomad	rs199948078
Varsome	rs199948078
LitVar	rs199948078
Map	rs199948078
PheGenI	rs199948078
Biobank	rs199948078
1000 genomes	rs199948078
hgdp	rs199948078
ensembl	rs199948078
geneview	rs199948078
scholar	rs199948078
google	rs199948078
pharmgkb	rs199948078
gwascentral	rs199948078
openSNP	rs199948078
23andMe	rs199948078
SNPshot	rs199948078
SNPdbe	rs199948078
MSV3d	rs199948078
GWAS Ctlg	rs199948078

Max Magnitude

0

ClinVar
Risk	rs199948078(T;T)
Alt	rs199948078(T;T)
Reference	Rs199948078(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.47730322G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014591.26,