rs62509013

Orientation

minus

Stabilized

minus

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

Make rs62509013(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

102855194

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62509013
dbSNP (classic)	rs62509013
ClinGen	rs62509013
ebi	rs62509013
HLI	rs62509013
Exac	rs62509013
Gnomad	rs62509013
Varsome	rs62509013
LitVar	rs62509013
Map	rs62509013
PheGenI	rs62509013
Biobank	rs62509013
1000 genomes	rs62509013
hgdp	rs62509013
ensembl	rs62509013
geneview	rs62509013
scholar	rs62509013
google	rs62509013
pharmgkb	rs62509013
gwascentral	rs62509013
openSNP	rs62509013
23andMe	rs62509013
SNPshot	rs62509013
SNPdbe	rs62509013
MSV3d	rs62509013
GWAS Ctlg	rs62509013

Max Magnitude

3

ClinVar
Risk	rs62509013(G;G)
Alt	rs62509013(G;G)
Reference	Rs62509013(C;C)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103248972G>C
CLNSRC
CLNACC	RCV000089019.1, RCV000179283.1,