rs281865449

Orientation

minus

Stabilized

minus

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

Make rs281865449(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102851685

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865449
dbSNP (classic)	rs281865449
ClinGen	rs281865449
ebi	rs281865449
HLI	rs281865449
Exac	rs281865449
Gnomad	rs281865449
Varsome	rs281865449
LitVar	rs281865449
Map	rs281865449
PheGenI	rs281865449
Biobank	rs281865449
1000 genomes	rs281865449
hgdp	rs281865449
ensembl	rs281865449
geneview	rs281865449
scholar	rs281865449
google	rs281865449
pharmgkb	rs281865449
gwascentral	rs281865449
openSNP	rs281865449
23andMe	rs281865449
SNPshot	rs281865449
SNPdbe	rs281865449
MSV3d	rs281865449
GWAS Ctlg	rs281865449

Max Magnitude

3

ClinVar
Risk	rs281865449(C;C)
Alt	rs281865449(C;C)
Reference	Rs281865449(T;T)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103245463A>G
CLNSRC	ClinVar
CLNACC	RCV000106373.1,