rs62514952

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852843

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62514952
dbSNP (classic)	rs62514952
ClinGen	rs62514952
ebi	rs62514952
HLI	rs62514952
Exac	rs62514952
Gnomad	rs62514952
Varsome	rs62514952
LitVar	rs62514952
Map	rs62514952
PheGenI	rs62514952
Biobank	rs62514952
1000 genomes	rs62514952
hgdp	rs62514952
ensembl	rs62514952
geneview	rs62514952
scholar	rs62514952
google	rs62514952
pharmgkb	rs62514952
gwascentral	rs62514952
openSNP	rs62514952
23andMe	rs62514952
SNPshot	rs62514952
SNPdbe	rs62514952
MSV3d	rs62514952
GWAS Ctlg	rs62514952

Max Magnitude

6

aka c.814G>T (p.Gly272Ter)

FTDNA & MyHeritage name: VG12S8449

OMIM	612349
Desc
Variant	0020
Related	also

ClinVar
Risk	Rs62514952(T;T)
Alt	Rs62514952(T;T)
Reference	Rs62514952(G;G)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246621C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000627.4, RCV000089110.3,