rs797044442

Orientation

plus

Stabilized

plus

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

Make rs797044442(A;G)

Make rs797044442(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

47502989

Gene

PHKB

is a	snp
is	mentioned by
dbSNP	rs797044442
dbSNP (classic)	rs797044442
ClinGen	rs797044442
ebi	rs797044442
HLI	rs797044442
Exac	rs797044442
Gnomad	rs797044442
Varsome	rs797044442
LitVar	rs797044442
Map	rs797044442
PheGenI	rs797044442
Biobank	rs797044442
1000 genomes	rs797044442
hgdp	rs797044442
ensembl	rs797044442
geneview	rs797044442
scholar	rs797044442
google	rs797044442
pharmgkb	rs797044442
gwascentral	rs797044442
openSNP	rs797044442
23andMe	rs797044442
SNPshot	rs797044442
SNPdbe	rs797044442
MSV3d	rs797044442
GWAS Ctlg	rs797044442

Max Magnitude

0

ClinVar
Risk	rs797044442(G;G)
Alt	rs797044442(G;G)
Reference	Rs797044442(A;A)
Significance	Pathogenic
Disease	Glycogen storage disease IXb
Variation	info
Gene	PHKB
CLNDBN	Glycogen storage disease IXb
Reversed	0
HGVS	NC_000016.9:g.47536900A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014589.20,