rs281865444

Orientation

minus

Stabilized

minus

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

Make rs281865444(A;A)

Make rs281865444(A;G)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102855160

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865444
dbSNP (classic)	rs281865444
ClinGen	rs281865444
ebi	rs281865444
HLI	rs281865444
Exac	rs281865444
Gnomad	rs281865444
Varsome	rs281865444
LitVar	rs281865444
Map	rs281865444
PheGenI	rs281865444
Biobank	rs281865444
1000 genomes	rs281865444
hgdp	rs281865444
ensembl	rs281865444
geneview	rs281865444
scholar	rs281865444
google	rs281865444
pharmgkb	rs281865444
gwascentral	rs281865444
openSNP	rs281865444
23andMe	rs281865444
SNPshot	rs281865444
SNPdbe	rs281865444
MSV3d	rs281865444
GWAS Ctlg	rs281865444

Max Magnitude

3

ClinVar
Risk	rs281865444(A;A)
Alt	rs281865444(A;A)
Reference	Rs281865444(G;G)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103248938C>T
CLNSRC	ClinVar
CLNACC	RCV000106365.1,