rs199475633

Orientation

minus

Stabilized

minus

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

Make rs199475633(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102844338

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475633
dbSNP (classic)	rs199475633
ClinGen	rs199475633
ebi	rs199475633
HLI	rs199475633
Exac	rs199475633
Gnomad	rs199475633
Varsome	rs199475633
LitVar	rs199475633
Map	rs199475633
PheGenI	rs199475633
Biobank	rs199475633
1000 genomes	rs199475633
hgdp	rs199475633
ensembl	rs199475633
geneview	rs199475633
scholar	rs199475633
google	rs199475633
pharmgkb	rs199475633
gwascentral	rs199475633
openSNP	rs199475633
23andMe	rs199475633
SNPshot	rs199475633
SNPdbe	rs199475633
MSV3d	rs199475633
GWAS Ctlg	rs199475633

Max Magnitude

3

ClinVar
Risk	rs199475633(T;T)
Alt	rs199475633(T;T)
Reference	Rs199475633(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103238116G>A
CLNSRC
CLNACC	RCV000088731.1,