rs281865436

Orientation

minus

Stabilized

minus

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

Make rs281865436(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102843649

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865436
dbSNP (classic)	rs281865436
ClinGen	rs281865436
ebi	rs281865436
HLI	rs281865436
Exac	rs281865436
Gnomad	rs281865436
Varsome	rs281865436
LitVar	rs281865436
Map	rs281865436
PheGenI	rs281865436
Biobank	rs281865436
1000 genomes	rs281865436
hgdp	rs281865436
ensembl	rs281865436
geneview	rs281865436
scholar	rs281865436
google	rs281865436
pharmgkb	rs281865436
gwascentral	rs281865436
openSNP	rs281865436
23andMe	rs281865436
SNPshot	rs281865436
SNPdbe	rs281865436
MSV3d	rs281865436
GWAS Ctlg	rs281865436

Max Magnitude

3

ClinVar
Risk	rs281865436(C;C)
Alt	rs281865436(C;C)
Reference	Rs281865436(T;T)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103237427A>G
CLNSRC	ClinVar
CLNACC	RCV000106344.1,