rs121913014

Orientation

minus

Stabilized

minus

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

Make rs121913014(C;T)

Make rs121913014(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70884029

Gene

PCBD1

is a	snp
is	mentioned by
dbSNP	rs121913014
dbSNP (classic)	rs121913014
ClinGen	rs121913014
ebi	rs121913014
HLI	rs121913014
Exac	rs121913014
Gnomad	rs121913014
Varsome	rs121913014
LitVar	rs121913014
Map	rs121913014
PheGenI	rs121913014
Biobank	rs121913014
1000 genomes	rs121913014
hgdp	rs121913014
ensembl	rs121913014
geneview	rs121913014
scholar	rs121913014
google	rs121913014
pharmgkb	rs121913014
gwascentral	rs121913014
openSNP	rs121913014
23andMe	rs121913014
SNPshot	rs121913014
SNPdbe	rs121913014
MSV3d	rs121913014
GWAS Ctlg	rs121913014

Max Magnitude

0

OMIM	126090
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913014(T;T)
Alt	rs121913014(T;T)
Reference	Rs121913014(C;C)
Significance	Pathogenic
Disease	Hyperphenylalaninemia
Variation	info
Gene	PCBD1
CLNDBN	Hyperphenylalaninemia, BH4-deficient, D
Reversed	1
HGVS	NC_000010.10:g.72643786G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018288.28,