rs62508736

Orientation

minus

Stabilized

minus

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

Make rs62508736(C;G)

Make rs62508736(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

102843661

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508736
dbSNP (classic)	rs62508736
ClinGen	rs62508736
ebi	rs62508736
HLI	rs62508736
Exac	rs62508736
Gnomad	rs62508736
Varsome	rs62508736
LitVar	rs62508736
Map	rs62508736
PheGenI	rs62508736
Biobank	rs62508736
1000 genomes	rs62508736
hgdp	rs62508736
ensembl	rs62508736
geneview	rs62508736
scholar	rs62508736
google	rs62508736
pharmgkb	rs62508736
gwascentral	rs62508736
openSNP	rs62508736
23andMe	rs62508736
SNPshot	rs62508736
SNPdbe	rs62508736
MSV3d	rs62508736
GWAS Ctlg	rs62508736

Max Magnitude

0

ClinVar
Risk	rs62508736(A;A) rs62508736(G;G)
Alt	rs62508736(A;A) rs62508736(G;G)
Reference	Rs62508736(C;C)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103237439G>C; NC_000012.11:g.103237439G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000088783.3, RCV000410586.2, RCV000088782.1,