rs62517207

Orientation

minus

Stabilized

minus

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

Make rs62517207(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855283

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62517207
dbSNP (classic)	rs62517207
ClinGen	rs62517207
ebi	rs62517207
HLI	rs62517207
Exac	rs62517207
Gnomad	rs62517207
Varsome	rs62517207
LitVar	rs62517207
Map	rs62517207
PheGenI	rs62517207
Biobank	rs62517207
1000 genomes	rs62517207
hgdp	rs62517207
ensembl	rs62517207
geneview	rs62517207
scholar	rs62517207
google	rs62517207
pharmgkb	rs62517207
gwascentral	rs62517207
openSNP	rs62517207
23andMe	rs62517207
SNPshot	rs62517207
SNPdbe	rs62517207
MSV3d	rs62517207
GWAS Ctlg	rs62517207

Max Magnitude

3

ClinVar
Risk	rs62517207(-;-)
Alt	rs62517207(-;-)
Reference	Rs62517207(AT;AT)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103249061_103249062delAT
CLNSRC
CLNACC	RCV000088983.1, RCV000412455.1,