rs74486803

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5.9	Non-phenylketonuria hyperphenylalaninemia genotype
(A;C)	3	Carrier of a non-phenylketonuria hyperphenylalaninemia allele
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a phenylketonuria mutation

Reference

GRCh38 38.1/141

Chromosome

12

Position

102855315

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs74486803
dbSNP (classic)	rs74486803
ClinGen	rs74486803
ebi	rs74486803
HLI	rs74486803
Exac	rs74486803
Gnomad	rs74486803
Varsome	rs74486803
LitVar	rs74486803
Map	rs74486803
PheGenI	rs74486803
Biobank	rs74486803
1000 genomes	rs74486803
hgdp	rs74486803
ensembl	rs74486803
geneview	rs74486803
scholar	rs74486803
google	rs74486803
pharmgkb	rs74486803
gwascentral	rs74486803
openSNP	rs74486803
23andMe	rs74486803
SNPshot	rs74486803
SNPdbe	rs74486803
MSV3d	rs74486803
GWAS Ctlg	rs74486803

Max Magnitude

5.9

OMIM	612349
Desc
Variant	0058
Related	also

ClinVar
Risk	Rs74486803(A;A) rs74486803(G;G) rs74486803(T;T)
Alt	Rs74486803(A;A) rs74486803(G;G) rs74486803(T;T)
Reference	Rs74486803(C;C)
Significance	Pathogenic
Disease	Hyperphenylalaninemia not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided Phenylketonuria
Reversed	0
HGVS	NC_000012.11:g.103249093C>A; NC_000012.11:g.103249093C>G; NC_000012.11:g.103249093C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000663.3, RCV000088974.3, RCV000346024.1, RCV000088973.1, RCV000088972.1,