rs62642935

Orientation

minus

Stabilized

minus

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

Make rs62642935(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

102846938

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642935
dbSNP (classic)	rs62642935
ClinGen	rs62642935
ebi	rs62642935
HLI	rs62642935
Exac	rs62642935
Gnomad	rs62642935
Varsome	rs62642935
LitVar	rs62642935
Map	rs62642935
PheGenI	rs62642935
Biobank	rs62642935
1000 genomes	rs62642935
hgdp	rs62642935
ensembl	rs62642935
geneview	rs62642935
scholar	rs62642935
google	rs62642935
pharmgkb	rs62642935
gwascentral	rs62642935
openSNP	rs62642935
23andMe	rs62642935
SNPshot	rs62642935
SNPdbe	rs62642935
MSV3d	rs62642935
GWAS Ctlg	rs62642935

Max Magnitude

3

aka c.926C>A (p.Ala309Asp)

FTDNA & MyHeritage name: VG12S8489

ClinVar
Risk	rs62642935(A;A) rs62642935(T;T)
Alt	rs62642935(A;A) rs62642935(T;T)
Reference	Rs62642935(C;C)
Significance	Other
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103240716G>A; NC_000012.11:g.103240716G>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078538.3, RCV000150082.3, RCV000089160.1,