rs62642944

Orientation

minus

Stabilized

minus

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

Make rs62642944(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

102852868

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642944
dbSNP (classic)	rs62642944
ClinGen	rs62642944
ebi	rs62642944
HLI	rs62642944
Exac	rs62642944
Gnomad	rs62642944
Varsome	rs62642944
LitVar	rs62642944
Map	rs62642944
PheGenI	rs62642944
Biobank	rs62642944
1000 genomes	rs62642944
hgdp	rs62642944
ensembl	rs62642944
geneview	rs62642944
scholar	rs62642944
google	rs62642944
pharmgkb	rs62642944
gwascentral	rs62642944
openSNP	rs62642944
23andMe	rs62642944
SNPshot	rs62642944
SNPdbe	rs62642944
MSV3d	rs62642944
GWAS Ctlg	rs62642944

Max Magnitude

3

ClinVar
Risk	rs62642944(G;G)
Alt	rs62642944(G;G)
Reference	Rs62642944(C;C)
Significance	Untested
Disease	not provided
Variation	info
Gene	PAH
CLNDBN	not provided
Reversed	1
HGVS	NC_000012.11:g.103246646G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000089092.1,