rs199475592

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;C)	3	Carrier of a phenylketonuria mutation

Make rs199475592(A;G)

Make rs199475592(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102851688

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475592
dbSNP (classic)	rs199475592
ClinGen	rs199475592
ebi	rs199475592
HLI	rs199475592
Exac	rs199475592
Gnomad	rs199475592
Varsome	rs199475592
LitVar	rs199475592
Map	rs199475592
PheGenI	rs199475592
Biobank	rs199475592
1000 genomes	rs199475592
hgdp	rs199475592
ensembl	rs199475592
geneview	rs199475592
scholar	rs199475592
google	rs199475592
pharmgkb	rs199475592
gwascentral	rs199475592
openSNP	rs199475592
23andMe	rs199475592
SNPshot	rs199475592
SNPdbe	rs199475592
MSV3d	rs199475592
GWAS Ctlg	rs199475592

Max Magnitude

3

ClinVar
Risk	rs199475592(G;G)
Alt	rs199475592(G;G)
Reference	Rs199475592(A;A)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103245466T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089153.1,