rs62642937

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102843706

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642937
dbSNP (classic)	rs62642937
ClinGen	rs62642937
ebi	rs62642937
HLI	rs62642937
Exac	rs62642937
Gnomad	rs62642937
Varsome	rs62642937
LitVar	rs62642937
Map	rs62642937
PheGenI	rs62642937
Biobank	rs62642937
1000 genomes	rs62642937
hgdp	rs62642937
ensembl	rs62642937
geneview	rs62642937
scholar	rs62642937
google	rs62642937
pharmgkb	rs62642937
gwascentral	rs62642937
openSNP	rs62642937
23andMe	rs62642937
SNPshot	rs62642937
SNPdbe	rs62642937
MSV3d	rs62642937
GWAS Ctlg	rs62642937

Max Magnitude

5.9

aka c.1139C>T (p.Thr380Met)

FTDNA & MyHeritage name: VG12S8217

OMIM	612349
Desc
Variant	0054
Related	also

ClinVar
Risk	Rs62642937(T;T)
Alt	Rs62642937(T;T)
Reference	Rs62642937(C;C)
Significance	Other
Disease	Hyperphenylalaninemia not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103237484G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000660.4, RCV000078502.6, RCV000150077.7,