rs727505360

Orientation

minus

Stabilized

minus

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

Make rs727505360(G;T)

Make rs727505360(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

70885854

Gene

PCBD1

is a	snp
is	mentioned by
dbSNP	rs727505360
dbSNP (classic)	rs727505360
ClinGen	rs727505360
ebi	rs727505360
HLI	rs727505360
Exac	rs727505360
Gnomad	rs727505360
Varsome	rs727505360
LitVar	rs727505360
Map	rs727505360
PheGenI	rs727505360
Biobank	rs727505360
1000 genomes	rs727505360
hgdp	rs727505360
ensembl	rs727505360
geneview	rs727505360
scholar	rs727505360
google	rs727505360
pharmgkb	rs727505360
gwascentral	rs727505360
openSNP	rs727505360
23andMe	rs727505360
SNPshot	rs727505360
SNPdbe	rs727505360
MSV3d	rs727505360
GWAS Ctlg	rs727505360

Max Magnitude

0

ClinVar
Risk	rs727505360(T;T)
Alt	rs727505360(T;T)
Reference	Rs727505360(G;G)
Significance	Pathogenic
Disease	Hyperphenylalaninemia
Variation	info
Gene	PCBD1
CLNDBN	Hyperphenylalaninemia, BH4-deficient, D
Reversed	1
HGVS	NC_000010.10:g.72645611C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000156929.3,