rs62508646

Orientation

minus

Stabilized

minus

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

Make rs62508646(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102844356

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62508646
dbSNP (classic)	rs62508646
ClinGen	rs62508646
ebi	rs62508646
HLI	rs62508646
Exac	rs62508646
Gnomad	rs62508646
Varsome	rs62508646
LitVar	rs62508646
Map	rs62508646
PheGenI	rs62508646
Biobank	rs62508646
1000 genomes	rs62508646
hgdp	rs62508646
ensembl	rs62508646
geneview	rs62508646
scholar	rs62508646
google	rs62508646
pharmgkb	rs62508646
gwascentral	rs62508646
openSNP	rs62508646
23andMe	rs62508646
SNPshot	rs62508646
SNPdbe	rs62508646
MSV3d	rs62508646
GWAS Ctlg	rs62508646

Max Magnitude

3

aka c.1045T>C (p.Ser349Pro)

FTDNA & MyHeritage name: VG12S8194

OMIM	612349
Desc
Variant	0041
Related	also

ClinVar
Risk	rs62508646(C;C) rs62508646(G;G)
Alt	rs62508646(C;C) rs62508646(G;G)
Reference	Rs62508646(T;T)
Significance	Other
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103238134A>C; NC_000012.11:g.103238134A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000088721.1, RCV000000646.7, RCV000078499.5,