rs111734407

Orientation

plus

Stabilized

plus

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

Make rs111734407(C;C)

Make rs111734407(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

47696408

Gene

PHKB

is a	snp
is	mentioned by
dbSNP	rs111734407
dbSNP (classic)	rs111734407
ClinGen	rs111734407
ebi	rs111734407
HLI	rs111734407
Exac	rs111734407
Gnomad	rs111734407
Varsome	rs111734407
LitVar	rs111734407
Map	rs111734407
PheGenI	rs111734407
Biobank	rs111734407
1000 genomes	rs111734407
hgdp	rs111734407
ensembl	rs111734407
geneview	rs111734407
scholar	rs111734407
google	rs111734407
pharmgkb	rs111734407
gwascentral	rs111734407
openSNP	rs111734407
23andMe	rs111734407
SNPshot	rs111734407
SNPdbe	rs111734407
MSV3d	rs111734407
GWAS Ctlg	rs111734407

Max Magnitude

0

ClinVar
Risk	rs111734407(A;A) rs111734407(C;C)
Alt	rs111734407(A;A) rs111734407(C;C)
Reference	Rs111734407(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.47730319T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014591.26,