rs62516142

Orientation

minus

Stabilized

minus

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

Make rs62516142(C;C)

Make rs62516142(C;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102843665

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516142
dbSNP (classic)	rs62516142
ClinGen	rs62516142
ebi	rs62516142
HLI	rs62516142
Exac	rs62516142
Gnomad	rs62516142
Varsome	rs62516142
LitVar	rs62516142
Map	rs62516142
PheGenI	rs62516142
Biobank	rs62516142
1000 genomes	rs62516142
hgdp	rs62516142
ensembl	rs62516142
geneview	rs62516142
scholar	rs62516142
google	rs62516142
pharmgkb	rs62516142
gwascentral	rs62516142
openSNP	rs62516142
23andMe	rs62516142
SNPshot	rs62516142
SNPdbe	rs62516142
MSV3d	rs62516142
GWAS Ctlg	rs62516142

Max Magnitude

0

ClinVar
Risk	rs62516142(C;C) rs62516142(T;T)
Alt	rs62516142(C;C) rs62516142(T;T)
Reference	Rs62516142(G;G)
Significance	Probable-Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103237443C>A; NC_000012.11:g.103237443C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000106343.1, RCV000088779.1,