rs5030859

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	5	phenylketonuria carrier
(A;G)	3	Carrier of a phenylketonuria mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/142

Chromosome

12

Position

102840492

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030859
dbSNP (classic)	rs5030859
ClinGen	rs5030859
ebi	rs5030859
HLI	rs5030859
Exac	rs5030859
Gnomad	rs5030859
Varsome	rs5030859
LitVar	rs5030859
Map	rs5030859
PheGenI	rs5030859
Biobank	rs5030859
1000 genomes	rs5030859
hgdp	rs5030859
ensembl	rs5030859
geneview	rs5030859
scholar	rs5030859
google	rs5030859
pharmgkb	rs5030859
gwascentral	rs5030859
openSNP	rs5030859
23andMe	rs5030859
SNPshot	rs5030859
SNPdbe	rs5030859
MSV3d	rs5030859
GWAS Ctlg	rs5030859

Max Magnitude

5

aka c.1223G>A (p.Arg408Gln)

FTDNA & MyHeritage name: VG12S8239

OMIM	612349
Desc
Variant	0038
Related	also

ClinVar
Risk	Rs5030859(A;A)
Alt	Rs5030859(A;A)
Reference	Rs5030859(G;G)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103234270C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000643.5, RCV000088806.1,