rs281865450

Orientation

minus

Stabilized

minus

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

Make rs281865450(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102851684

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865450
dbSNP (classic)	rs281865450
ClinGen	rs281865450
ebi	rs281865450
HLI	rs281865450
Exac	rs281865450
Gnomad	rs281865450
Varsome	rs281865450
LitVar	rs281865450
Map	rs281865450
PheGenI	rs281865450
Biobank	rs281865450
1000 genomes	rs281865450
hgdp	rs281865450
ensembl	rs281865450
geneview	rs281865450
scholar	rs281865450
google	rs281865450
pharmgkb	rs281865450
gwascentral	rs281865450
openSNP	rs281865450
23andMe	rs281865450
SNPshot	rs281865450
SNPdbe	rs281865450
MSV3d	rs281865450
GWAS Ctlg	rs281865450

Max Magnitude

3

ClinVar
Risk	rs281865450(C;C)
Alt	rs281865450(C;C)
Reference	Rs281865450(A;A)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103245462T>G
CLNSRC	ClinVar
CLNACC	RCV000106374.1,