rs794727619

Orientation

minus

Stabilized

minus

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

Make rs794727619(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

102877546

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs794727619
dbSNP (classic)	rs794727619
ClinGen	rs794727619
ebi	rs794727619
HLI	rs794727619
Exac	rs794727619
Gnomad	rs794727619
Varsome	rs794727619
LitVar	rs794727619
Map	rs794727619
PheGenI	rs794727619
Biobank	rs794727619
1000 genomes	rs794727619
hgdp	rs794727619
ensembl	rs794727619
geneview	rs794727619
scholar	rs794727619
google	rs794727619
pharmgkb	rs794727619
gwascentral	rs794727619
openSNP	rs794727619
23andMe	rs794727619
SNPshot	rs794727619
SNPdbe	rs794727619
MSV3d	rs794727619
GWAS Ctlg	rs794727619

Max Magnitude

3

ClinVar
Risk	rs794727619(-;-)
Alt	rs794727619(-;-)
Reference	Rs794727619(C;C)
Significance	Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103271324delG
CLNSRC
CLNACC	RCV000178065.1,