rs62507288

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
(G;T)	3	Carrier of a phenylketonuria mutation

Make rs62507288(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102912786

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62507288
dbSNP (classic)	rs62507288
ClinGen	rs62507288
ebi	rs62507288
HLI	rs62507288
Exac	rs62507288
Gnomad	rs62507288
Varsome	rs62507288
LitVar	rs62507288
Map	rs62507288
PheGenI	rs62507288
Biobank	rs62507288
1000 genomes	rs62507288
hgdp	rs62507288
ensembl	rs62507288
geneview	rs62507288
scholar	rs62507288
google	rs62507288
pharmgkb	rs62507288
gwascentral	rs62507288
openSNP	rs62507288
23andMe	rs62507288
SNPshot	rs62507288
SNPdbe	rs62507288
MSV3d	rs62507288
GWAS Ctlg	rs62507288

Max Magnitude

3

ClinVar
Risk	rs62507288(A;A) rs62507288(C;C) rs62507288(T;T)
Alt	rs62507288(A;A) rs62507288(C;C) rs62507288(T;T)
Reference	Rs62507288(G;G)
Significance	Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103306564C>A; NC_000012.11:g.103306564C>G; NC_000012.11:g.103306564C>T
CLNSRC
CLNACC	RCV000088849.1, RCV000088848.1, RCV000350592.1, RCV000088847.1,