rs62507321

Orientation

minus

Stabilized

minus

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

Make rs62507321(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102877457

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62507321
dbSNP (classic)	rs62507321
ClinGen	rs62507321
ebi	rs62507321
HLI	rs62507321
Exac	rs62507321
Gnomad	rs62507321
Varsome	rs62507321
LitVar	rs62507321
Map	rs62507321
PheGenI	rs62507321
Biobank	rs62507321
1000 genomes	rs62507321
hgdp	rs62507321
ensembl	rs62507321
geneview	rs62507321
scholar	rs62507321
google	rs62507321
pharmgkb	rs62507321
gwascentral	rs62507321
openSNP	rs62507321
23andMe	rs62507321
SNPshot	rs62507321
SNPdbe	rs62507321
MSV3d	rs62507321
GWAS Ctlg	rs62507321

Max Magnitude

3

ClinVar
Risk	rs62507321(T;T)
Alt	rs62507321(T;T)
Reference	Rs62507321(G;G)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103271235C>A
CLNSRC	HGMD
CLNACC	RCV000078521.5, RCV000150089.3,