rs62507347

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

12

Position

102894860

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62507347
dbSNP (classic)	rs62507347
ClinGen	rs62507347
ebi	rs62507347
HLI	rs62507347
Exac	rs62507347
Gnomad	rs62507347
Varsome	rs62507347
LitVar	rs62507347
Map	rs62507347
PheGenI	rs62507347
Biobank	rs62507347
1000 genomes	rs62507347
hgdp	rs62507347
ensembl	rs62507347
geneview	rs62507347
scholar	rs62507347
google	rs62507347
pharmgkb	rs62507347
gwascentral	rs62507347
openSNP	rs62507347
23andMe	rs62507347
SNPshot	rs62507347
SNPdbe	rs62507347
MSV3d	rs62507347
GWAS Ctlg	rs62507347

Max Magnitude

5.9

OMIM	612349
Desc
Variant	0067
Related	also

ClinVar
Risk	rs62507347(C;C) Rs62507347(G;G)
Alt	rs62507347(C;C) Rs62507347(G;G)
Reference	Rs62507347(A;A)
Significance	Pathogenic
Disease	Hyperphenylalaninemia not provided
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided
Reversed	1
HGVS	NC_000012.11:g.103288638T>C; NC_000012.11:g.103288638T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000671.4, RCV000088878.1, RCV000088877.1,