rs62517199

Orientation

minus

Stabilized

minus

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

Make rs62517199(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102844433

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62517199
dbSNP (classic)	rs62517199
ClinGen	rs62517199
ebi	rs62517199
HLI	rs62517199
Exac	rs62517199
Gnomad	rs62517199
Varsome	rs62517199
LitVar	rs62517199
Map	rs62517199
PheGenI	rs62517199
Biobank	rs62517199
1000 genomes	rs62517199
hgdp	rs62517199
ensembl	rs62517199
geneview	rs62517199
scholar	rs62517199
google	rs62517199
pharmgkb	rs62517199
gwascentral	rs62517199
openSNP	rs62517199
23andMe	rs62517199
SNPshot	rs62517199
SNPdbe	rs62517199
MSV3d	rs62517199
GWAS Ctlg	rs62517199

Max Magnitude

3

ClinVar
Risk	rs62517199(C;C)
Alt	rs62517199(C;C)
Reference	Rs62517199(A;A)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103238211T>G
CLNSRC
CLNACC	RCV000089184.1,