rs281865429

Orientation

minus

Stabilized

minus

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

Make rs281865429(-;-)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102852820

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865429
dbSNP (classic)	rs281865429
ClinGen	rs281865429
ebi	rs281865429
HLI	rs281865429
Exac	rs281865429
Gnomad	rs281865429
Varsome	rs281865429
LitVar	rs281865429
Map	rs281865429
PheGenI	rs281865429
Biobank	rs281865429
1000 genomes	rs281865429
hgdp	rs281865429
ensembl	rs281865429
geneview	rs281865429
scholar	rs281865429
google	rs281865429
pharmgkb	rs281865429
gwascentral	rs281865429
openSNP	rs281865429
23andMe	rs281865429
SNPshot	rs281865429
SNPdbe	rs281865429
MSV3d	rs281865429
GWAS Ctlg	rs281865429

Max Magnitude

3

ClinVar
Risk	rs281865429(-;-)
Alt	rs281865429(-;-)
Reference	Rs281865429(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246598delG
CLNSRC	ClinVar
CLNACC	RCV000106369.1,