rs76212747

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852923

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs76212747
dbSNP (classic)	rs76212747
ClinGen	rs76212747
ebi	rs76212747
HLI	rs76212747
Exac	rs76212747
Gnomad	rs76212747
Varsome	rs76212747
LitVar	rs76212747
Map	rs76212747
PheGenI	rs76212747
Biobank	rs76212747
1000 genomes	rs76212747
hgdp	rs76212747
ensembl	rs76212747
geneview	rs76212747
scholar	rs76212747
google	rs76212747
pharmgkb	rs76212747
gwascentral	rs76212747
openSNP	rs76212747
23andMe	rs76212747
SNPshot	rs76212747
SNPdbe	rs76212747
MSV3d	rs76212747
GWAS Ctlg	rs76212747

Max Magnitude

5.9

OMIM	612349
Desc
Variant	0059
Related	also

ClinVar
Risk	rs76212747(A;A) Rs76212747(C;C)
Alt	rs76212747(A;A) Rs76212747(C;C)
Reference	Rs76212747(T;T)
Significance	Other
Disease	Hyperphenylalaninemia not provided Hyperphenylalaninaemia Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku not provided Hyperphenylalaninaemia Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246701A>G; NC_000012.11:g.103246701A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000664.3, RCV000089065.3, RCV000148724.1, RCV000346938.1, RCV000089064.1,