rs62514898

Orientation

minus

Stabilized

minus

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

Make rs62514898(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102912790

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62514898
dbSNP (classic)	rs62514898
ClinGen	rs62514898
ebi	rs62514898
HLI	rs62514898
Exac	rs62514898
Gnomad	rs62514898
Varsome	rs62514898
LitVar	rs62514898
Map	rs62514898
PheGenI	rs62514898
Biobank	rs62514898
1000 genomes	rs62514898
hgdp	rs62514898
ensembl	rs62514898
geneview	rs62514898
scholar	rs62514898
google	rs62514898
pharmgkb	rs62514898
gwascentral	rs62514898
openSNP	rs62514898
23andMe	rs62514898
SNPshot	rs62514898
SNPdbe	rs62514898
MSV3d	rs62514898
GWAS Ctlg	rs62514898

Max Magnitude

3

ClinVar
Risk	rs62514898(A;A)
Alt	rs62514898(A;A)
Reference	Rs62514898(G;G)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103306568C>T
CLNSRC
CLNACC	RCV000088846.1, RCV000169163.1,