rs199475599

Orientation

minus

Stabilized

minus

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

Make rs199475599(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102877467

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475599
dbSNP (classic)	rs199475599
ClinGen	rs199475599
ebi	rs199475599
HLI	rs199475599
Exac	rs199475599
Gnomad	rs199475599
Varsome	rs199475599
LitVar	rs199475599
Map	rs199475599
PheGenI	rs199475599
Biobank	rs199475599
1000 genomes	rs199475599
hgdp	rs199475599
ensembl	rs199475599
geneview	rs199475599
scholar	rs199475599
google	rs199475599
pharmgkb	rs199475599
gwascentral	rs199475599
openSNP	rs199475599
23andMe	rs199475599
SNPshot	rs199475599
SNPdbe	rs199475599
MSV3d	rs199475599
GWAS Ctlg	rs199475599

Max Magnitude

3

ClinVar
Risk	rs199475599(T;T)
Alt	rs199475599(T;T)
Reference	Rs199475599(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103271245G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000088916.1,