rs62508689

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.p2 38.2/144

Chromosome

12

Position

102844333

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508689
dbSNP (classic)	rs62508689
ClinGen	rs62508689
ebi	rs62508689
HLI	rs62508689
Exac	rs62508689
Gnomad	rs62508689
Varsome	rs62508689
LitVar	rs62508689
Map	rs62508689
PheGenI	rs62508689
Biobank	rs62508689
1000 genomes	rs62508689
hgdp	rs62508689
ensembl	rs62508689
geneview	rs62508689
scholar	rs62508689
google	rs62508689
pharmgkb	rs62508689
gwascentral	rs62508689
openSNP	rs62508689
23andMe	rs62508689
SNPshot	rs62508689
SNPdbe	rs62508689
MSV3d	rs62508689
GWAS Ctlg	rs62508689

Max Magnitude

5.9

ClinVar
Risk	rs62508689(C;C) Rs62508689(G;G)
Alt	rs62508689(C;C) Rs62508689(G;G)
Reference	Rs62508689(A;A)
Significance	Pathogenic
Disease	Hyperphenylalaninemia not provided not specified
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided not specified
Reversed	1
HGVS	NC_000012.11:g.103238111T>C; NC_000012.11:g.103238111T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000665.3, RCV000088736.1, RCV000271177.1, RCV000088735.1,