rs62509015

Orientation

minus

Stabilized

minus

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

Make rs62509015(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102843645

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62509015
dbSNP (classic)	rs62509015
ClinGen	rs62509015
ebi	rs62509015
HLI	rs62509015
Exac	rs62509015
Gnomad	rs62509015
Varsome	rs62509015
LitVar	rs62509015
Map	rs62509015
PheGenI	rs62509015
Biobank	rs62509015
1000 genomes	rs62509015
hgdp	rs62509015
ensembl	rs62509015
geneview	rs62509015
scholar	rs62509015
google	rs62509015
pharmgkb	rs62509015
gwascentral	rs62509015
openSNP	rs62509015
23andMe	rs62509015
SNPshot	rs62509015
SNPdbe	rs62509015
MSV3d	rs62509015
GWAS Ctlg	rs62509015

Max Magnitude

3

ClinVar
Risk	rs62509015(A;A) rs62509015(C;C) rs62509015(T;T)
Alt	rs62509015(A;A) rs62509015(C;C) rs62509015(T;T)
Reference	Rs62509015(G;G)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103237423C>G; NC_000012.11:g.103237423C>T
CLNSRC
CLNACC	RCV000088791.3, RCV000169248.1, RCV000088790.1,