rs199475588

Orientation

minus

Stabilized

minus

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

Make rs199475588(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855328

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475588
dbSNP (classic)	rs199475588
ClinGen	rs199475588
ebi	rs199475588
HLI	rs199475588
Exac	rs199475588
Gnomad	rs199475588
Varsome	rs199475588
LitVar	rs199475588
Map	rs199475588
PheGenI	rs199475588
Biobank	rs199475588
1000 genomes	rs199475588
hgdp	rs199475588
ensembl	rs199475588
geneview	rs199475588
scholar	rs199475588
google	rs199475588
pharmgkb	rs199475588
gwascentral	rs199475588
openSNP	rs199475588
23andMe	rs199475588
SNPshot	rs199475588
SNPdbe	rs199475588
MSV3d	rs199475588
GWAS Ctlg	rs199475588

Max Magnitude

3

ClinVar
Risk	rs199475588(T;T)
Alt	rs199475588(T;T)
Reference	Rs199475588(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103249106G>A
CLNSRC
CLNACC	RCV000088966.1,