rs62516062

Orientation

minus

Stabilized

minus

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

Make rs62516062(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

102844368

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516062
dbSNP (classic)	rs62516062
ClinGen	rs62516062
ebi	rs62516062
HLI	rs62516062
Exac	rs62516062
Gnomad	rs62516062
Varsome	rs62516062
LitVar	rs62516062
Map	rs62516062
PheGenI	rs62516062
Biobank	rs62516062
1000 genomes	rs62516062
hgdp	rs62516062
ensembl	rs62516062
geneview	rs62516062
scholar	rs62516062
google	rs62516062
pharmgkb	rs62516062
gwascentral	rs62516062
openSNP	rs62516062
23andMe	rs62516062
SNPshot	rs62516062
SNPdbe	rs62516062
MSV3d	rs62516062
GWAS Ctlg	rs62516062

Max Magnitude

3

ClinVar
Risk	rs62516062(A;A) rs62516062(T;T)
Alt	rs62516062(A;A) rs62516062(T;T)
Reference	Rs62516062(G;G)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103238146C>A; NC_000012.11:g.103238146C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000088715.3, RCV000088714.1, RCV000490440.1,