rs62507283

Orientation

minus

Stabilized

minus

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

Make rs62507283(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102852941

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62507283
dbSNP (classic)	rs62507283
ClinGen	rs62507283
ebi	rs62507283
HLI	rs62507283
Exac	rs62507283
Gnomad	rs62507283
Varsome	rs62507283
LitVar	rs62507283
Map	rs62507283
PheGenI	rs62507283
Biobank	rs62507283
1000 genomes	rs62507283
hgdp	rs62507283
ensembl	rs62507283
geneview	rs62507283
scholar	rs62507283
google	rs62507283
pharmgkb	rs62507283
gwascentral	rs62507283
openSNP	rs62507283
23andMe	rs62507283
SNPshot	rs62507283
SNPdbe	rs62507283
MSV3d	rs62507283
GWAS Ctlg	rs62507283

Max Magnitude

3

ClinVar
Risk	rs62507283(A;A) rs62507283(C;C) rs62507283(T;T)
Alt	rs62507283(A;A) rs62507283(C;C) rs62507283(T;T)
Reference	Rs62507283(G;G)
Significance	Untested
Disease	not provided not specified
Variation	info
Gene	PAH
CLNDBN	not provided not specified
Reversed	1
HGVS	NC_000012.11:g.103246719C>A; NC_000012.11:g.103246719C>G; NC_000012.11:g.103246719C>T
CLNSRC	HGMD
CLNACC	RCV000089051.5, RCV000259121.1, RCV000089050.1, RCV000089049.1,