rs62516060

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a non-phenylketonuria hyperphenylalaninemia allele
(T;T)	5.9	Non-phenylketonuria hyperphenylalaninemia genotype

Reference

GRCh38 38.1/141

Chromosome

12

Position

102844404

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516060
dbSNP (classic)	rs62516060
ClinGen	rs62516060
ebi	rs62516060
HLI	rs62516060
Exac	rs62516060
Gnomad	rs62516060
Varsome	rs62516060
LitVar	rs62516060
Map	rs62516060
PheGenI	rs62516060
Biobank	rs62516060
1000 genomes	rs62516060
hgdp	rs62516060
ensembl	rs62516060
geneview	rs62516060
scholar	rs62516060
google	rs62516060
pharmgkb	rs62516060
gwascentral	rs62516060
openSNP	rs62516060
23andMe	rs62516060
SNPshot	rs62516060
SNPdbe	rs62516060
MSV3d	rs62516060
GWAS Ctlg	rs62516060

Max Magnitude

5.9

OMIM	612349
Desc
Variant	0050
Related	also

ClinVar
Risk	Rs62516060(T;T)
Alt	Rs62516060(T;T)
Reference	Rs62516060(C;C)
Significance	Pathogenic
Disease	Hyperphenylalaninemia not provided
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided
Reversed	1
HGVS	NC_000012.11:g.103238182G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000655.3, RCV000089195.1,