rs62517194

Orientation

minus

Stabilized

minus

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

Make rs62517194(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102843686

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62517194
dbSNP (classic)	rs62517194
ClinGen	rs62517194
ebi	rs62517194
HLI	rs62517194
Exac	rs62517194
Gnomad	rs62517194
Varsome	rs62517194
LitVar	rs62517194
Map	rs62517194
PheGenI	rs62517194
Biobank	rs62517194
1000 genomes	rs62517194
hgdp	rs62517194
ensembl	rs62517194
geneview	rs62517194
scholar	rs62517194
google	rs62517194
pharmgkb	rs62517194
gwascentral	rs62517194
openSNP	rs62517194
23andMe	rs62517194
SNPshot	rs62517194
SNPdbe	rs62517194
MSV3d	rs62517194
GWAS Ctlg	rs62517194

Max Magnitude

3

ClinVar
Risk	rs62517194(C;C)
Alt	rs62517194(C;C)
Reference	Rs62517194(T;T)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103237464A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000088772.1,