rs199475624

Orientation

minus

Stabilized

minus

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

Make rs199475624(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102877464

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475624
dbSNP (classic)	rs199475624
ClinGen	rs199475624
ebi	rs199475624
HLI	rs199475624
Exac	rs199475624
Gnomad	rs199475624
Varsome	rs199475624
LitVar	rs199475624
Map	rs199475624
PheGenI	rs199475624
Biobank	rs199475624
1000 genomes	rs199475624
hgdp	rs199475624
ensembl	rs199475624
geneview	rs199475624
scholar	rs199475624
google	rs199475624
pharmgkb	rs199475624
gwascentral	rs199475624
openSNP	rs199475624
23andMe	rs199475624
SNPshot	rs199475624
SNPdbe	rs199475624
MSV3d	rs199475624
GWAS Ctlg	rs199475624

Max Magnitude

3

ClinVar
Risk	rs199475624(T;T)
Alt	rs199475624(T;T)
Reference	Rs199475624(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103271242G>A
CLNSRC
CLNACC	RCV000088917.1,