rs199475566

Orientation

minus

Stabilized

minus

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

Make rs199475566(-;-)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102912794

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs199475566
dbSNP (classic)	rs199475566
ClinGen	rs199475566
ebi	rs199475566
HLI	rs199475566
Exac	rs199475566
Gnomad	rs199475566
Varsome	rs199475566
LitVar	rs199475566
Map	rs199475566
PheGenI	rs199475566
Biobank	rs199475566
1000 genomes	rs199475566
hgdp	rs199475566
ensembl	rs199475566
geneview	rs199475566
scholar	rs199475566
google	rs199475566
pharmgkb	rs199475566
gwascentral	rs199475566
openSNP	rs199475566
23andMe	rs199475566
SNPshot	rs199475566
SNPdbe	rs199475566
MSV3d	rs199475566
GWAS Ctlg	rs199475566

Max Magnitude

3

ClinVar
Risk	rs199475566(-;-)
Alt	rs199475566(-;-)
Reference	Rs199475566(T;T)
Significance	Other
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103306572delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000642.5, RCV000078513.5,