rs62508577

Orientation

minus

Stabilized

minus

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

Make rs62508577(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855150

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508577
dbSNP (classic)	rs62508577
ClinGen	rs62508577
ebi	rs62508577
HLI	rs62508577
Exac	rs62508577
Gnomad	rs62508577
Varsome	rs62508577
LitVar	rs62508577
Map	rs62508577
PheGenI	rs62508577
Biobank	rs62508577
1000 genomes	rs62508577
hgdp	rs62508577
ensembl	rs62508577
geneview	rs62508577
scholar	rs62508577
google	rs62508577
pharmgkb	rs62508577
gwascentral	rs62508577
openSNP	rs62508577
23andMe	rs62508577
SNPshot	rs62508577
SNPdbe	rs62508577
MSV3d	rs62508577
GWAS Ctlg	rs62508577

Max Magnitude

3

ClinVar
Risk	rs62508577(T;T)
Alt	rs62508577(T;T)
Reference	Rs62508577(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103248928G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089038.1,