rs758004953

Orientation

plus

Stabilized

plus

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

Make rs758004953(C;T)

Make rs758004953(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

47641630

Gene

PHKB

is a	snp
is	mentioned by
dbSNP	rs758004953
dbSNP (classic)	rs758004953
ClinGen	rs758004953
ebi	rs758004953
HLI	rs758004953
Exac	rs758004953
Gnomad	rs758004953
Varsome	rs758004953
LitVar	rs758004953
Map	rs758004953
PheGenI	rs758004953
Biobank	rs758004953
1000 genomes	rs758004953
hgdp	rs758004953
ensembl	rs758004953
geneview	rs758004953
scholar	rs758004953
google	rs758004953
pharmgkb	rs758004953
gwascentral	rs758004953
openSNP	rs758004953
23andMe	rs758004953
SNPshot	rs758004953
SNPdbe	rs758004953
MSV3d	rs758004953
GWAS Ctlg	rs758004953

Max Magnitude

0

ClinVar
Risk	rs758004953(T;T)
Alt	rs758004953(T;T)
Reference	Rs758004953(C;C)
Significance	Pathogenic
Disease	Glycogen storage disease IXb
Variation	info
Gene	PHKB
CLNDBN	Glycogen storage disease IXb
Reversed	0
HGVS	NC_000016.9:g.47675541C>T
CLNSRC
CLNACC	RCV000393619.1,