rs104894172

Orientation

minus

Stabilized

minus

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

Make rs104894172(G;T)

Make rs104894172(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

70884006

Gene

PCBD1

is a	snp
is	mentioned by
dbSNP	rs104894172
dbSNP (classic)	rs104894172
ClinGen	rs104894172
ebi	rs104894172
HLI	rs104894172
Exac	rs104894172
Gnomad	rs104894172
Varsome	rs104894172
LitVar	rs104894172
Map	rs104894172
PheGenI	rs104894172
Biobank	rs104894172
1000 genomes	rs104894172
hgdp	rs104894172
ensembl	rs104894172
geneview	rs104894172
scholar	rs104894172
google	rs104894172
pharmgkb	rs104894172
gwascentral	rs104894172
openSNP	rs104894172
23andMe	rs104894172
SNPshot	rs104894172
SNPdbe	rs104894172
MSV3d	rs104894172
GWAS Ctlg	rs104894172

Max Magnitude

0

OMIM	126090
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894172(T;T)
Alt	rs104894172(T;T)
Reference	Rs104894172(G;G)
Significance	Pathogenic
Disease	Hyperphenylalaninemia
Variation	info
Gene	PCBD1
CLNDBN	Hyperphenylalaninemia, BH4-deficient, D
Reversed	1
HGVS	NC_000010.10:g.72643763C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018286.25,