rs5030850

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

102852876

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030850
dbSNP (classic)	rs5030850
ClinGen	rs5030850
ebi	rs5030850
HLI	rs5030850
Exac	rs5030850
Gnomad	rs5030850
Varsome	rs5030850
LitVar	rs5030850
Map	rs5030850
PheGenI	rs5030850
Biobank	rs5030850
1000 genomes	rs5030850
hgdp	rs5030850
ensembl	rs5030850
geneview	rs5030850
scholar	rs5030850
google	rs5030850
pharmgkb	rs5030850
gwascentral	rs5030850
openSNP	rs5030850
23andMe	rs5030850
SNPshot	rs5030850
SNPdbe	rs5030850
MSV3d	rs5030850
GWAS Ctlg	rs5030850

Max Magnitude

6

aka c.781C>T (p.Arg261Ter)

FTDNA & MyHeritage name: VG12S8434

OMIM	612349
Desc
Variant	0036
Related	also

ClinVar
Risk	rs5030850(G;G) Rs5030850(T;T)
Alt	rs5030850(G;G) Rs5030850(T;T)
Reference	Rs5030850(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103246654G>A; NC_000012.11:g.103246654G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000641.5, RCV000089090.1, RCV000119826.1,