rs76296470

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a phenylketonuria mutation
(T;T)	6	Phenyketonuria

Reference

GRCh38 38.1/142

Chromosome

12

Position

102894756

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs76296470
dbSNP (classic)	rs76296470
ClinGen	rs76296470
ebi	rs76296470
HLI	rs76296470
Exac	rs76296470
Gnomad	rs76296470
Varsome	rs76296470
LitVar	rs76296470
Map	rs76296470
PheGenI	rs76296470
Biobank	rs76296470
1000 genomes	rs76296470
hgdp	rs76296470
ensembl	rs76296470
geneview	rs76296470
scholar	rs76296470
google	rs76296470
pharmgkb	rs76296470
gwascentral	rs76296470
openSNP	rs76296470
23andMe	rs76296470
SNPshot	rs76296470
SNPdbe	rs76296470
MSV3d	rs76296470
GWAS Ctlg	rs76296470

Max Magnitude

6

aka c.331C>T (p.Arg111Ter)

FTDNA & MyHeritage name: VG12S8298

OMIM	612349
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs76296470(T;T)
Alt	Rs76296470(T;T)
Reference	Rs76296470(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103288534G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000611.5, RCV000088898.3,