rs62642932

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6	Phenyketonuria
(A;G)	3	Carrier of a phenylketonuria mutation
(G;G)	0	common/normal

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852882

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642932
dbSNP (classic)	rs62642932
ClinGen	rs62642932
ebi	rs62642932
HLI	rs62642932
Exac	rs62642932
Gnomad	rs62642932
Varsome	rs62642932
LitVar	rs62642932
Map	rs62642932
PheGenI	rs62642932
Biobank	rs62642932
1000 genomes	rs62642932
hgdp	rs62642932
ensembl	rs62642932
geneview	rs62642932
scholar	rs62642932
google	rs62642932
pharmgkb	rs62642932
gwascentral	rs62642932
openSNP	rs62642932
23andMe	rs62642932
SNPshot	rs62642932
SNPdbe	rs62642932
MSV3d	rs62642932
GWAS Ctlg	rs62642932

Max Magnitude

6

ClinVar
Risk	Rs62642932(A;A)
Alt	Rs62642932(A;A)
Reference	Rs62642932(G;G)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246660C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089088.1, RCV000411173.1,