rs199475654

Orientation

minus

Stabilized

minus

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

Make rs199475654(T;T)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852816

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475654
dbSNP (classic)	rs199475654
ClinGen	rs199475654
ebi	rs199475654
HLI	rs199475654
Exac	rs199475654
Gnomad	rs199475654
Varsome	rs199475654
LitVar	rs199475654
Map	rs199475654
PheGenI	rs199475654
Biobank	rs199475654
1000 genomes	rs199475654
hgdp	rs199475654
ensembl	rs199475654
geneview	rs199475654
scholar	rs199475654
google	rs199475654
pharmgkb	rs199475654
gwascentral	rs199475654
openSNP	rs199475654
23andMe	rs199475654
SNPshot	rs199475654
SNPdbe	rs199475654
MSV3d	rs199475654
GWAS Ctlg	rs199475654

Max Magnitude

3

ClinVar
Risk	rs199475654(G;G) rs199475654(T;T)
Alt	rs199475654(G;G) rs199475654(T;T)
Reference	Rs199475654(C;C)
Significance	Probable-Pathogenic
Disease	not provided not specified Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided not specified Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246594G>A; NC_000012.11:g.103246594G>C
CLNSRC	HGMD
CLNACC	RCV000078533.6, RCV000259050.1, RCV000106370.1,