rs62644473

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a phenylketonuria mutation

Make rs62644473(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102840495

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62644473
dbSNP (classic)	rs62644473
ClinGen	rs62644473
ebi	rs62644473
HLI	rs62644473
Exac	rs62644473
Gnomad	rs62644473
Varsome	rs62644473
LitVar	rs62644473
Map	rs62644473
PheGenI	rs62644473
Biobank	rs62644473
1000 genomes	rs62644473
hgdp	rs62644473
ensembl	rs62644473
geneview	rs62644473
scholar	rs62644473
google	rs62644473
pharmgkb	rs62644473
gwascentral	rs62644473
openSNP	rs62644473
23andMe	rs62644473
SNPshot	rs62644473
SNPdbe	rs62644473
MSV3d	rs62644473
GWAS Ctlg	rs62644473

Max Magnitude

3

OMIM	612349
Desc
Variant	0062
Related	also

ClinVar
Risk	rs62644473(T;T)
Alt	rs62644473(T;T)
Reference	Rs62644473(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103234273G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000667.4, RCV000088804.1,