rs199475657

Orientation

minus

Stabilized

minus

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

Make rs199475657(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102852935

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475657
dbSNP (classic)	rs199475657
ClinGen	rs199475657
ebi	rs199475657
HLI	rs199475657
Exac	rs199475657
Gnomad	rs199475657
Varsome	rs199475657
LitVar	rs199475657
Map	rs199475657
PheGenI	rs199475657
Biobank	rs199475657
1000 genomes	rs199475657
hgdp	rs199475657
ensembl	rs199475657
geneview	rs199475657
scholar	rs199475657
google	rs199475657
pharmgkb	rs199475657
gwascentral	rs199475657
openSNP	rs199475657
23andMe	rs199475657
SNPshot	rs199475657
SNPdbe	rs199475657
MSV3d	rs199475657
GWAS Ctlg	rs199475657

Max Magnitude

3

ClinVar
Risk	rs199475657(-;-)
Alt	rs199475657(-;-)
Reference	Rs199475657(G;G)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246713delC
CLNSRC
CLNACC	RCV000089057.1, RCV000169560.1, RCV000454199.1,