rs281865428

Orientation

minus

Stabilized

minus

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

Make rs281865428(-;-)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102894737

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865428
dbSNP (classic)	rs281865428
ClinGen	rs281865428
ebi	rs281865428
HLI	rs281865428
Exac	rs281865428
Gnomad	rs281865428
Varsome	rs281865428
LitVar	rs281865428
Map	rs281865428
PheGenI	rs281865428
Biobank	rs281865428
1000 genomes	rs281865428
hgdp	rs281865428
ensembl	rs281865428
geneview	rs281865428
scholar	rs281865428
google	rs281865428
pharmgkb	rs281865428
gwascentral	rs281865428
openSNP	rs281865428
23andMe	rs281865428
SNPshot	rs281865428
SNPdbe	rs281865428
MSV3d	rs281865428
GWAS Ctlg	rs281865428

Max Magnitude

3

ClinVar
Risk	rs281865428(-;-)
Alt	rs281865428(-;-)
Reference	Rs281865428(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103288515delG
CLNSRC	ClinVar
CLNACC	RCV000106355.1,