rs5030843

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102866632

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030843
dbSNP (classic)	rs5030843
ClinGen	rs5030843
ebi	rs5030843
HLI	rs5030843
Exac	rs5030843
Gnomad	rs5030843
Varsome	rs5030843
LitVar	rs5030843
Map	rs5030843
PheGenI	rs5030843
Biobank	rs5030843
1000 genomes	rs5030843
hgdp	rs5030843
ensembl	rs5030843
geneview	rs5030843
scholar	rs5030843
google	rs5030843
pharmgkb	rs5030843
gwascentral	rs5030843
openSNP	rs5030843
23andMe	rs5030843
SNPshot	rs5030843
SNPdbe	rs5030843
MSV3d	rs5030843
GWAS Ctlg	rs5030843

Max Magnitude

6

OMIM	612349
Desc
Variant	0010
Related	also

aka c.473G>A (p.Arg158Gln)

FTDNA & MyHeritage name: VG12S8320

ClinVar
Risk	Rs5030843(A;A) rs5030843(C;C)
Alt	Rs5030843(A;A) rs5030843(C;C)
Reference	Rs5030843(G;G)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103260410C>G; NC_000012.11:g.103260410C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000088942.1, RCV000000618.7, RCV000078522.5,