rs281865448

Orientation

minus

Stabilized

minus

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

Make rs281865448(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102866665

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865448
dbSNP (classic)	rs281865448
ClinGen	rs281865448
ebi	rs281865448
HLI	rs281865448
Exac	rs281865448
Gnomad	rs281865448
Varsome	rs281865448
LitVar	rs281865448
Map	rs281865448
PheGenI	rs281865448
Biobank	rs281865448
1000 genomes	rs281865448
hgdp	rs281865448
ensembl	rs281865448
geneview	rs281865448
scholar	rs281865448
google	rs281865448
pharmgkb	rs281865448
gwascentral	rs281865448
openSNP	rs281865448
23andMe	rs281865448
SNPshot	rs281865448
SNPdbe	rs281865448
MSV3d	rs281865448
GWAS Ctlg	rs281865448

Max Magnitude

3

ClinVar
Risk	rs281865448(C;C)
Alt	rs281865448(C;C)
Reference	Rs281865448(A;A)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103260443T>G
CLNSRC	ClinVar
CLNACC	RCV000106357.1,