rs62514951

Orientation

minus

Stabilized

minus

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

Make rs62514951(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102852847

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62514951
dbSNP (classic)	rs62514951
ClinGen	rs62514951
ebi	rs62514951
HLI	rs62514951
Exac	rs62514951
Gnomad	rs62514951
Varsome	rs62514951
LitVar	rs62514951
Map	rs62514951
PheGenI	rs62514951
Biobank	rs62514951
1000 genomes	rs62514951
hgdp	rs62514951
ensembl	rs62514951
geneview	rs62514951
scholar	rs62514951
google	rs62514951
pharmgkb	rs62514951
gwascentral	rs62514951
openSNP	rs62514951
23andMe	rs62514951
SNPshot	rs62514951
SNPdbe	rs62514951
MSV3d	rs62514951
GWAS Ctlg	rs62514951

Max Magnitude

3

ClinVar
Risk	rs62514951(T;T)
Alt	rs62514951(T;T)
Reference	Rs62514951(A;A)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103246625T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089106.1,