rs62508575

Orientation

minus

Stabilized

minus

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

Make rs62508575(C;C)

Make rs62508575(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

102917129

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508575
dbSNP (classic)	rs62508575
ClinGen	rs62508575
ebi	rs62508575
HLI	rs62508575
Exac	rs62508575
Gnomad	rs62508575
Varsome	rs62508575
LitVar	rs62508575
Map	rs62508575
PheGenI	rs62508575
Biobank	rs62508575
1000 genomes	rs62508575
hgdp	rs62508575
ensembl	rs62508575
geneview	rs62508575
scholar	rs62508575
google	rs62508575
pharmgkb	rs62508575
gwascentral	rs62508575
openSNP	rs62508575
23andMe	rs62508575
SNPshot	rs62508575
SNPdbe	rs62508575
MSV3d	rs62508575
GWAS Ctlg	rs62508575

Max Magnitude

3

ClinVar
Risk	rs62508575(C;C) rs62508575(G;G)
Alt	rs62508575(C;C) rs62508575(G;G)
Reference	Rs62508575(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103310907A>C; NC_000012.11:g.103310907A>G
CLNSRC
CLNACC	RCV000088893.1, RCV000186076.2,