rs62517196

Orientation

minus

Stabilized

minus

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

Make rs62517196(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102846889

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62517196
dbSNP (classic)	rs62517196
ClinGen	rs62517196
ebi	rs62517196
HLI	rs62517196
Exac	rs62517196
Gnomad	rs62517196
Varsome	rs62517196
LitVar	rs62517196
Map	rs62517196
PheGenI	rs62517196
Biobank	rs62517196
1000 genomes	rs62517196
hgdp	rs62517196
ensembl	rs62517196
geneview	rs62517196
scholar	rs62517196
google	rs62517196
pharmgkb	rs62517196
gwascentral	rs62517196
openSNP	rs62517196
23andMe	rs62517196
SNPshot	rs62517196
SNPdbe	rs62517196
MSV3d	rs62517196
GWAS Ctlg	rs62517196

Max Magnitude

3

ClinVar
Risk	rs62517196(A;A)
Alt	rs62517196(A;A)
Reference	Rs62517196(T;T)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103240667A>T
CLNSRC
CLNACC	RCV000089182.1,