rs62508592

Orientation

minus

Stabilized

minus

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

Make rs62508592(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855119

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508592
dbSNP (classic)	rs62508592
ClinGen	rs62508592
ebi	rs62508592
HLI	rs62508592
Exac	rs62508592
Gnomad	rs62508592
Varsome	rs62508592
LitVar	rs62508592
Map	rs62508592
PheGenI	rs62508592
Biobank	rs62508592
1000 genomes	rs62508592
hgdp	rs62508592
ensembl	rs62508592
geneview	rs62508592
scholar	rs62508592
google	rs62508592
pharmgkb	rs62508592
gwascentral	rs62508592
openSNP	rs62508592
23andMe	rs62508592
SNPshot	rs62508592
SNPdbe	rs62508592
MSV3d	rs62508592
GWAS Ctlg	rs62508592

Max Magnitude

3

ClinVar
Risk	rs62508592(T;T)
Alt	rs62508592(T;T)
Reference	Rs62508592(G;G)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103248897C>A
CLNSRC
CLNACC	RCV000089043.1,