rs137852868

Orientation

minus

Stabilized

minus

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

Make rs137852868(C;G)

Make rs137852868(G;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

121839998

Gene

HPD

is a	snp
is	mentioned by
dbSNP	rs137852868
dbSNP (classic)	rs137852868
ClinGen	rs137852868
ebi	rs137852868
HLI	rs137852868
Exac	rs137852868
Gnomad	rs137852868
Varsome	rs137852868
LitVar	rs137852868
Map	rs137852868
PheGenI	rs137852868
Biobank	rs137852868
1000 genomes	rs137852868
hgdp	rs137852868
ensembl	rs137852868
geneview	rs137852868
scholar	rs137852868
google	rs137852868
pharmgkb	rs137852868
gwascentral	rs137852868
openSNP	rs137852868
23andMe	rs137852868
SNPshot	rs137852868
SNPdbe	rs137852868
MSV3d	rs137852868
GWAS Ctlg	rs137852868

GMAF

0.0009183

Max Magnitude

0

OMIM	609695
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852868(G;G)
Alt	rs137852868(G;G)
Reference	Rs137852868(C;C)
Significance	Pathogenic
Disease	4-Hydroxyphenylpyruvate dioxygenase deficiency Hypertyrosinemia 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
Variation	info
Gene	HPD
CLNDBN	4-Hydroxyphenylpyruvate dioxygenase deficiency Hypertyrosinemia 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
Reversed	1
HGVS	NC_000012.11:g.122277904G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001642.4, RCV000348223.1, RCV000386406.1,