rs62507336

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 rs62507336(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

102855281

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62507336
dbSNP (classic)	rs62507336
ClinGen	rs62507336
ebi	rs62507336
HLI	rs62507336
Exac	rs62507336
Gnomad	rs62507336
Varsome	rs62507336
LitVar	rs62507336
Map	rs62507336
PheGenI	rs62507336
Biobank	rs62507336
1000 genomes	rs62507336
hgdp	rs62507336
ensembl	rs62507336
geneview	rs62507336
scholar	rs62507336
google	rs62507336
pharmgkb	rs62507336
gwascentral	rs62507336
openSNP	rs62507336
23andMe	rs62507336
SNPshot	rs62507336
SNPdbe	rs62507336
MSV3d	rs62507336
GWAS Ctlg	rs62507336

Max Magnitude

3

ClinVar
Risk	rs62507336(A;A) rs62507336(C;C)
Alt	rs62507336(A;A) rs62507336(C;C)
Reference	Rs62507336(G;G)
Significance	Probable-Pathogenic
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103249059C>G; NC_000012.11:g.103249059C>T
CLNSRC
CLNACC	RCV000088986.1, RCV000088985.1, RCV000169529.1,