rs62516095

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/142

Chromosome

12

Position

102843777

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516095
dbSNP (classic)	rs62516095
ClinGen	rs62516095
ebi	rs62516095
HLI	rs62516095
Exac	rs62516095
Gnomad	rs62516095
Varsome	rs62516095
LitVar	rs62516095
Map	rs62516095
PheGenI	rs62516095
Biobank	rs62516095
1000 genomes	rs62516095
hgdp	rs62516095
ensembl	rs62516095
geneview	rs62516095
scholar	rs62516095
google	rs62516095
pharmgkb	rs62516095
gwascentral	rs62516095
openSNP	rs62516095
23andMe	rs62516095
SNPshot	rs62516095
SNPdbe	rs62516095
MSV3d	rs62516095
GWAS Ctlg	rs62516095

Max Magnitude

6

aka c.1068C>A (p.Tyr356Ter)

FTDNA & MyHeritage name: VG12S8204

OMIM	612349
Desc
Variant	0019
Related	also

ClinVar
Risk	rs62516095(A;A) Rs62516095(G;G)
Alt	rs62516095(A;A) Rs62516095(G;G)
Reference	Rs62516095(C;C)
Significance	Other
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103237555G>C; NC_000012.11:g.103237555G>T
CLNSRC	OMIM Allelic Variant HGMD
CLNACC	RCV000000626.6, RCV000088745.2, RCV000078501.5, RCV000150078.4,