rs281865442

Orientation

minus

Stabilized

minus

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

Make rs281865442(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102855251

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865442
dbSNP (classic)	rs281865442
ClinGen	rs281865442
ebi	rs281865442
HLI	rs281865442
Exac	rs281865442
Gnomad	rs281865442
Varsome	rs281865442
LitVar	rs281865442
Map	rs281865442
PheGenI	rs281865442
Biobank	rs281865442
1000 genomes	rs281865442
hgdp	rs281865442
ensembl	rs281865442
geneview	rs281865442
scholar	rs281865442
google	rs281865442
pharmgkb	rs281865442
gwascentral	rs281865442
openSNP	rs281865442
23andMe	rs281865442
SNPshot	rs281865442
SNPdbe	rs281865442
MSV3d	rs281865442
GWAS Ctlg	rs281865442

Max Magnitude

3

ClinVar
Risk	rs281865442(C;C)
Alt	rs281865442(C;C)
Reference	Rs281865442(G;G)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103249029C>G
CLNSRC	ClinVar
CLNACC	RCV000106361.1,