rs62514958

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;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

102846899

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62514958
dbSNP (classic)	rs62514958
ClinGen	rs62514958
ebi	rs62514958
HLI	rs62514958
Exac	rs62514958
Gnomad	rs62514958
Varsome	rs62514958
LitVar	rs62514958
Map	rs62514958
PheGenI	rs62514958
Biobank	rs62514958
1000 genomes	rs62514958
hgdp	rs62514958
ensembl	rs62514958
geneview	rs62514958
scholar	rs62514958
google	rs62514958
pharmgkb	rs62514958
gwascentral	rs62514958
openSNP	rs62514958
23andMe	rs62514958
SNPshot	rs62514958
SNPdbe	rs62514958
MSV3d	rs62514958
GWAS Ctlg	rs62514958

Max Magnitude

5.9

OMIM	612349
Desc
Variant	0042
Related	also

ClinVar
Risk	Rs62514958(G;G)
Alt	Rs62514958(G;G)
Reference	Rs62514958(C;C)
Significance	Pathogenic
Disease	Mild non-PKU hyperphenylalanemia not provided
Variation	info
Gene	PAH
CLNDBN	Mild non-PKU hyperphenylalanemia not provided
Reversed	1
HGVS	NC_000012.11:g.103240677G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000647.2, RCV000089177.1,