rs281865430

Orientation

minus

Stabilized

minus

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

Make rs281865430(-;-)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102846932

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865430
dbSNP (classic)	rs281865430
ClinGen	rs281865430
ebi	rs281865430
HLI	rs281865430
Exac	rs281865430
Gnomad	rs281865430
Varsome	rs281865430
LitVar	rs281865430
Map	rs281865430
PheGenI	rs281865430
Biobank	rs281865430
1000 genomes	rs281865430
hgdp	rs281865430
ensembl	rs281865430
geneview	rs281865430
scholar	rs281865430
google	rs281865430
pharmgkb	rs281865430
gwascentral	rs281865430
openSNP	rs281865430
23andMe	rs281865430
SNPshot	rs281865430
SNPdbe	rs281865430
MSV3d	rs281865430
GWAS Ctlg	rs281865430

Max Magnitude

3

ClinVar
Risk	rs281865430(-;-)
Alt	rs281865430(-;-)
Reference	Rs281865430(CT;CT)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103240710_103240711delAG
CLNSRC	ClinVar
CLNACC	RCV000106378.1,