rs62517179

Orientation

minus

Stabilized

minus

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

Make rs62517179(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102844410

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62517179
dbSNP (classic)	rs62517179
ClinGen	rs62517179
ebi	rs62517179
HLI	rs62517179
Exac	rs62517179
Gnomad	rs62517179
Varsome	rs62517179
LitVar	rs62517179
Map	rs62517179
PheGenI	rs62517179
Biobank	rs62517179
1000 genomes	rs62517179
hgdp	rs62517179
ensembl	rs62517179
geneview	rs62517179
scholar	rs62517179
google	rs62517179
pharmgkb	rs62517179
gwascentral	rs62517179
openSNP	rs62517179
23andMe	rs62517179
SNPshot	rs62517179
SNPdbe	rs62517179
MSV3d	rs62517179
GWAS Ctlg	rs62517179

Max Magnitude

3

ClinVar
Risk	rs62517179(C;C)
Alt	rs62517179(C;C)
Reference	Rs62517179(T;T)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103238188A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089192.1,