rs137852867

Orientation

minus

Stabilized

minus

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

Make rs137852867(C;G)

Make rs137852867(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

121847211

Gene

HPD

is a	snp
is	mentioned by
dbSNP	rs137852867
dbSNP (classic)	rs137852867
ClinGen	rs137852867
ebi	rs137852867
HLI	rs137852867
Exac	rs137852867
Gnomad	rs137852867
Varsome	rs137852867
LitVar	rs137852867
Map	rs137852867
PheGenI	rs137852867
Biobank	rs137852867
1000 genomes	rs137852867
hgdp	rs137852867
ensembl	rs137852867
geneview	rs137852867
scholar	rs137852867
google	rs137852867
pharmgkb	rs137852867
gwascentral	rs137852867
openSNP	rs137852867
23andMe	rs137852867
SNPshot	rs137852867
SNPdbe	rs137852867
MSV3d	rs137852867
GWAS Ctlg	rs137852867

Max Magnitude

0

OMIM	609695
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852867(G;G)
Alt	rs137852867(G;G)
Reference	Rs137852867(C;C)
Significance	Pathogenic
Disease	4-Hydroxyphenylpyruvate dioxygenase deficiency
Variation	info
Gene	HPD
CLNDBN	4-Hydroxyphenylpyruvate dioxygenase deficiency
Reversed	1
HGVS	NC_000012.11:g.122285117G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001641.5,