rs62642933

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	6	Phenyketonuria
(G;T)	3	Carrier of a phenylketonuria mutation
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

12

Position

102851703

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642933
dbSNP (classic)	rs62642933
ClinGen	rs62642933
ebi	rs62642933
HLI	rs62642933
Exac	rs62642933
Gnomad	rs62642933
Varsome	rs62642933
LitVar	rs62642933
Map	rs62642933
PheGenI	rs62642933
Biobank	rs62642933
1000 genomes	rs62642933
hgdp	rs62642933
ensembl	rs62642933
geneview	rs62642933
scholar	rs62642933
google	rs62642933
pharmgkb	rs62642933
gwascentral	rs62642933
openSNP	rs62642933
23andMe	rs62642933
SNPshot	rs62642933
SNPdbe	rs62642933
MSV3d	rs62642933
GWAS Ctlg	rs62642933

Max Magnitude

6

aka c.896T>G (p.Phe299Cys)

FTDNA & MyHeritage name: VG12S8479

OMIM	612349
Desc
Variant	0039
Related	also

ClinVar
Risk	Rs62642933(G;G)
Alt	Rs62642933(G;G)
Reference	Rs62642933(T;T)
Significance	Other
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103245481A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000644.7, RCV000089148.3,