rs62508588

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6	Phenyketonuria
(A;G)	3	Carrier of a phenylketonuria mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

12

Position

102852929

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508588
dbSNP (classic)	rs62508588
ClinGen	rs62508588
ebi	rs62508588
HLI	rs62508588
Exac	rs62508588
Gnomad	rs62508588
Varsome	rs62508588
LitVar	rs62508588
Map	rs62508588
PheGenI	rs62508588
Biobank	rs62508588
1000 genomes	rs62508588
hgdp	rs62508588
ensembl	rs62508588
geneview	rs62508588
scholar	rs62508588
google	rs62508588
pharmgkb	rs62508588
gwascentral	rs62508588
openSNP	rs62508588
23andMe	rs62508588
SNPshot	rs62508588
SNPdbe	rs62508588
MSV3d	rs62508588
GWAS Ctlg	rs62508588

Max Magnitude

6

OMIM	612349
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs62508588(A;A) rs62508588(T;T)
Alt	Rs62508588(A;A) rs62508588(T;T)
Reference	Rs62508588(G;G)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246707C>A; NC_000012.11:g.103246707C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000089060.1, RCV000000622.4, RCV000089059.3,