rs281865454

Orientation

minus

Stabilized

minus

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

Make rs281865454(T;T)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102894891

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865454
dbSNP (classic)	rs281865454
ClinGen	rs281865454
ebi	rs281865454
HLI	rs281865454
Exac	rs281865454
Gnomad	rs281865454
Varsome	rs281865454
LitVar	rs281865454
Map	rs281865454
PheGenI	rs281865454
Biobank	rs281865454
1000 genomes	rs281865454
hgdp	rs281865454
ensembl	rs281865454
geneview	rs281865454
scholar	rs281865454
google	rs281865454
pharmgkb	rs281865454
gwascentral	rs281865454
openSNP	rs281865454
23andMe	rs281865454
SNPshot	rs281865454
SNPdbe	rs281865454
MSV3d	rs281865454
GWAS Ctlg	rs281865454

Max Magnitude

3

ClinVar
Risk	rs281865454(T;T)
Alt	rs281865454(T;T)
Reference	Rs281865454(G;G)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103288669C>A
CLNSRC	ClinVar
CLNACC	RCV000106351.1,