rs199475585

Orientation

minus

Stabilized

minus

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

Make rs199475585(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102917073

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475585
dbSNP (classic)	rs199475585
ClinGen	rs199475585
ebi	rs199475585
HLI	rs199475585
Exac	rs199475585
Gnomad	rs199475585
Varsome	rs199475585
LitVar	rs199475585
Map	rs199475585
PheGenI	rs199475585
Biobank	rs199475585
1000 genomes	rs199475585
hgdp	rs199475585
ensembl	rs199475585
geneview	rs199475585
scholar	rs199475585
google	rs199475585
pharmgkb	rs199475585
gwascentral	rs199475585
openSNP	rs199475585
23andMe	rs199475585
SNPshot	rs199475585
SNPdbe	rs199475585
MSV3d	rs199475585
GWAS Ctlg	rs199475585

Max Magnitude

3

ClinVar
Risk	rs199475585(T;T)
Alt	rs199475585(T;T)
Reference	Rs199475585(C;C)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103310851G>A
CLNSRC
CLNACC	RCV000088993.1, RCV000169450.1,