rs121913015

Orientation

minus

Stabilized

minus

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

Make rs121913015(C;T)

Make rs121913015(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70883973

Gene

PCBD1

is a	snp
is	mentioned by
dbSNP	rs121913015
dbSNP (classic)	rs121913015
ClinGen	rs121913015
ebi	rs121913015
HLI	rs121913015
Exac	rs121913015
Gnomad	rs121913015
Varsome	rs121913015
LitVar	rs121913015
Map	rs121913015
PheGenI	rs121913015
Biobank	rs121913015
1000 genomes	rs121913015
hgdp	rs121913015
ensembl	rs121913015
geneview	rs121913015
scholar	rs121913015
google	rs121913015
pharmgkb	rs121913015
gwascentral	rs121913015
openSNP	rs121913015
23andMe	rs121913015
SNPshot	rs121913015
SNPdbe	rs121913015
MSV3d	rs121913015
GWAS Ctlg	rs121913015

Max Magnitude

0

OMIM	126090
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121913015(T;T)
Alt	rs121913015(T;T)
Reference	Rs121913015(C;C)
Significance	Pathogenic
Disease	Hyperphenylalaninemia
Variation	info
Gene	PCBD1
CLNDBN	Hyperphenylalaninemia, BH4-deficient, D
Reversed	1
HGVS	NC_000010.10:g.72643730G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018290.24,