rs62514928

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	3	Carrier of a phenylketonuria mutation

Make rs62514928(C;C)

Make rs62514928(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102855230

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62514928
dbSNP (classic)	rs62514928
ClinGen	rs62514928
ebi	rs62514928
HLI	rs62514928
Exac	rs62514928
Gnomad	rs62514928
Varsome	rs62514928
LitVar	rs62514928
Map	rs62514928
PheGenI	rs62514928
Biobank	rs62514928
1000 genomes	rs62514928
hgdp	rs62514928
ensembl	rs62514928
geneview	rs62514928
scholar	rs62514928
google	rs62514928
pharmgkb	rs62514928
gwascentral	rs62514928
openSNP	rs62514928
23andMe	rs62514928
SNPshot	rs62514928
SNPdbe	rs62514928
MSV3d	rs62514928
GWAS Ctlg	rs62514928

Max Magnitude

3

ClinVar
Risk	rs62514928(C;C) rs62514928(G;G)
Alt	rs62514928(C;C) rs62514928(G;G)
Reference	Rs62514928(T;T)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103249008A>C; NC_000012.11:g.103249008A>G
CLNSRC
CLNACC	RCV000089008.1, RCV000106363.1,