rs62514938

Orientation

minus

Stabilized

minus

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

Make rs62514938(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102852952

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62514938
dbSNP (classic)	rs62514938
ClinGen	rs62514938
ebi	rs62514938
HLI	rs62514938
Exac	rs62514938
Gnomad	rs62514938
Varsome	rs62514938
LitVar	rs62514938
Map	rs62514938
PheGenI	rs62514938
Biobank	rs62514938
1000 genomes	rs62514938
hgdp	rs62514938
ensembl	rs62514938
geneview	rs62514938
scholar	rs62514938
google	rs62514938
pharmgkb	rs62514938
gwascentral	rs62514938
openSNP	rs62514938
23andMe	rs62514938
SNPshot	rs62514938
SNPdbe	rs62514938
MSV3d	rs62514938
GWAS Ctlg	rs62514938

Max Magnitude

3

ClinVar
Risk	rs62514938(G;G)
Alt	rs62514938(G;G)
Reference	Rs62514938(A;A)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103246730T>C
CLNSRC
CLNACC	RCV000089045.1,