rs62642934

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

102846948

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642934
dbSNP (classic)	rs62642934
ClinGen	rs62642934
ebi	rs62642934
HLI	rs62642934
Exac	rs62642934
Gnomad	rs62642934
Varsome	rs62642934
LitVar	rs62642934
Map	rs62642934
PheGenI	rs62642934
Biobank	rs62642934
1000 genomes	rs62642934
hgdp	rs62642934
ensembl	rs62642934
geneview	rs62642934
scholar	rs62642934
google	rs62642934
pharmgkb	rs62642934
gwascentral	rs62642934
openSNP	rs62642934
23andMe	rs62642934
SNPshot	rs62642934
SNPdbe	rs62642934
MSV3d	rs62642934
GWAS Ctlg	rs62642934

Max Magnitude

5.9

OMIM	612349
Desc
Variant	0044
Related	also

ClinVar
Risk	Rs62642934(G;G)
Alt	Rs62642934(G;G)
Reference	Rs62642934(A;A)
Significance	Pathogenic
Disease	Hyperphenylalaninemia not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103240726T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000649.4, RCV000089157.3, RCV000169485.1,