rs62516096

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;TCT)	3	Carrier of a phenylketonuria mutation
(CTT;CTT)	0	common in clinvar
(TCT;TCT)	0	common in clinvar

Make rs62516096(-;-)

Make rs62516096(-;CTT)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102843753

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516096
dbSNP (classic)	rs62516096
ClinGen	rs62516096
ebi	rs62516096
HLI	rs62516096
Exac	rs62516096
Gnomad	rs62516096
Varsome	rs62516096
LitVar	rs62516096
Map	rs62516096
PheGenI	rs62516096
Biobank	rs62516096
1000 genomes	rs62516096
hgdp	rs62516096
ensembl	rs62516096
geneview	rs62516096
scholar	rs62516096
google	rs62516096
pharmgkb	rs62516096
gwascentral	rs62516096
openSNP	rs62516096
23andMe	rs62516096
SNPshot	rs62516096
SNPdbe	rs62516096
MSV3d	rs62516096
GWAS Ctlg	rs62516096

Merged from

Rs786200861

Max Magnitude

3

ClinVar
Risk	Rs62516096(TCT;TCT) rs62516096(-;-)
Alt	Rs62516096(TCT;TCT) rs62516096(-;-)
Reference	Rs62516096(CTT;CTT)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103237529_103237531delAGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000628.4, RCV000088752.1,