rs62508578

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs62508578(A;G)

Make rs62508578(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102844427

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508578
dbSNP (classic)	rs62508578
ClinGen	rs62508578
ebi	rs62508578
HLI	rs62508578
Exac	rs62508578
Gnomad	rs62508578
Varsome	rs62508578
LitVar	rs62508578
Map	rs62508578
PheGenI	rs62508578
Biobank	rs62508578
1000 genomes	rs62508578
hgdp	rs62508578
ensembl	rs62508578
geneview	rs62508578
scholar	rs62508578
google	rs62508578
pharmgkb	rs62508578
gwascentral	rs62508578
openSNP	rs62508578
23andMe	rs62508578
SNPshot	rs62508578
SNPdbe	rs62508578
MSV3d	rs62508578
GWAS Ctlg	rs62508578

Max Magnitude

0

ClinVar
Risk	rs62508578(G;G)
Alt	rs62508578(G;G)
Reference	Rs62508578(A;A)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103238205T>C
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078541.3, RCV000150081.3,