rs281865455

Orientation

minus

Stabilized

minus

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

Make rs281865455(A;A)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102866601

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865455
dbSNP (classic)	rs281865455
ClinGen	rs281865455
ebi	rs281865455
HLI	rs281865455
Exac	rs281865455
Gnomad	rs281865455
Varsome	rs281865455
LitVar	rs281865455
Map	rs281865455
PheGenI	rs281865455
Biobank	rs281865455
1000 genomes	rs281865455
hgdp	rs281865455
ensembl	rs281865455
geneview	rs281865455
scholar	rs281865455
google	rs281865455
pharmgkb	rs281865455
gwascentral	rs281865455
openSNP	rs281865455
23andMe	rs281865455
SNPshot	rs281865455
SNPdbe	rs281865455
MSV3d	rs281865455
GWAS Ctlg	rs281865455

Max Magnitude

3

ClinVar
Risk	rs281865455(A;A)
Alt	rs281865455(A;A)
Reference	Rs281865455(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103260379G>T
CLNSRC	ClinVar
CLNACC	RCV000106358.1,