rs62516144

Orientation

minus

Stabilized

minus

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

Make rs62516144(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102912785

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62516144
dbSNP (classic)	rs62516144
ClinGen	rs62516144
ebi	rs62516144
HLI	rs62516144
Exac	rs62516144
Gnomad	rs62516144
Varsome	rs62516144
LitVar	rs62516144
Map	rs62516144
PheGenI	rs62516144
Biobank	rs62516144
1000 genomes	rs62516144
hgdp	rs62516144
ensembl	rs62516144
geneview	rs62516144
scholar	rs62516144
google	rs62516144
pharmgkb	rs62516144
gwascentral	rs62516144
openSNP	rs62516144
23andMe	rs62516144
SNPshot	rs62516144
SNPdbe	rs62516144
MSV3d	rs62516144
GWAS Ctlg	rs62516144

Max Magnitude

3

ClinVar
Risk	rs62516144(G;G)
Alt	rs62516144(G;G)
Reference	Rs62516144(T;T)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103306563A>C
CLNSRC
CLNACC	RCV000088850.1,