rs5030846

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852930

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030846
dbSNP (classic)	rs5030846
ClinGen	rs5030846
ebi	rs5030846
HLI	rs5030846
Exac	rs5030846
Gnomad	rs5030846
Varsome	rs5030846
LitVar	rs5030846
Map	rs5030846
PheGenI	rs5030846
Biobank	rs5030846
1000 genomes	rs5030846
hgdp	rs5030846
ensembl	rs5030846
geneview	rs5030846
scholar	rs5030846
google	rs5030846
pharmgkb	rs5030846
gwascentral	rs5030846
openSNP	rs5030846
23andMe	rs5030846
SNPshot	rs5030846
SNPdbe	rs5030846
MSV3d	rs5030846
GWAS Ctlg	rs5030846

Max Magnitude

6

aka c.727C>T (p.Arg243Ter)

FTDNA & MyHeritage name: VG12S8405

OMIM	612349
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs5030846(T;T)
Alt	Rs5030846(T;T)
Reference	Rs5030846(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246708G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000000619.8, RCV000078528.3,