rs281865443

Orientation

minus

Stabilized

minus

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

Make rs281865443(T;T)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102855210

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865443
dbSNP (classic)	rs281865443
ClinGen	rs281865443
ebi	rs281865443
HLI	rs281865443
Exac	rs281865443
Gnomad	rs281865443
Varsome	rs281865443
LitVar	rs281865443
Map	rs281865443
PheGenI	rs281865443
Biobank	rs281865443
1000 genomes	rs281865443
hgdp	rs281865443
ensembl	rs281865443
geneview	rs281865443
scholar	rs281865443
google	rs281865443
pharmgkb	rs281865443
gwascentral	rs281865443
openSNP	rs281865443
23andMe	rs281865443
SNPshot	rs281865443
SNPdbe	rs281865443
MSV3d	rs281865443
GWAS Ctlg	rs281865443

Max Magnitude

3

ClinVar
Risk	rs281865443(T;T)
Alt	rs281865443(T;T)
Reference	Rs281865443(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103248988G>A
CLNSRC	ClinVar
CLNACC	RCV000106364.1,