rs5030851

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852815

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030851
dbSNP (classic)	rs5030851
ClinGen	rs5030851
ebi	rs5030851
HLI	rs5030851
Exac	rs5030851
Gnomad	rs5030851
Varsome	rs5030851
LitVar	rs5030851
Map	rs5030851
PheGenI	rs5030851
Biobank	rs5030851
1000 genomes	rs5030851
hgdp	rs5030851
ensembl	rs5030851
geneview	rs5030851
scholar	rs5030851
google	rs5030851
pharmgkb	rs5030851
gwascentral	rs5030851
openSNP	rs5030851
23andMe	rs5030851
SNPshot	rs5030851
SNPdbe	rs5030851
MSV3d	rs5030851
GWAS Ctlg	rs5030851

Max Magnitude

6

aka c.842C>T (p.Pro281Leu)

FTDNA & MyHeritage name: VG12S8467

OMIM	612349
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs5030851(T;T)
Alt	Rs5030851(T;T)
Reference	Rs5030851(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246593G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000620.9, RCV000078534.4,