rs121918021

Orientation

plus

Stabilized

plus

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

Make rs121918021(A;A)

Make rs121918021(A;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

47596425

Gene

PHKB

is a	snp
is	mentioned by
dbSNP	rs121918021
dbSNP (classic)	rs121918021
ClinGen	rs121918021
ebi	rs121918021
HLI	rs121918021
Exac	rs121918021
Gnomad	rs121918021
Varsome	rs121918021
LitVar	rs121918021
Map	rs121918021
PheGenI	rs121918021
Biobank	rs121918021
1000 genomes	rs121918021
hgdp	rs121918021
ensembl	rs121918021
geneview	rs121918021
scholar	rs121918021
google	rs121918021
pharmgkb	rs121918021
gwascentral	rs121918021
openSNP	rs121918021
23andMe	rs121918021
SNPshot	rs121918021
SNPdbe	rs121918021
MSV3d	rs121918021
GWAS Ctlg	rs121918021

Max Magnitude

0

OMIM	172490
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918021(A;A)
Alt	rs121918021(A;A)
Reference	Rs121918021(T;T)
Significance	Pathogenic
Disease	Glycogen storage disease IXb
Variation	info
Gene	PHKB
CLNDBN	Glycogen storage disease IXb
Reversed	0
HGVS	NC_000016.9:g.47630336T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014590.27,