rs281865438

Orientation

minus

Stabilized

minus

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

Make rs281865438(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

102912795

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs281865438
dbSNP (classic)	rs281865438
ClinGen	rs281865438
ebi	rs281865438
HLI	rs281865438
Exac	rs281865438
Gnomad	rs281865438
Varsome	rs281865438
LitVar	rs281865438
Map	rs281865438
PheGenI	rs281865438
Biobank	rs281865438
1000 genomes	rs281865438
hgdp	rs281865438
ensembl	rs281865438
geneview	rs281865438
scholar	rs281865438
google	rs281865438
pharmgkb	rs281865438
gwascentral	rs281865438
openSNP	rs281865438
23andMe	rs281865438
SNPshot	rs281865438
SNPdbe	rs281865438
MSV3d	rs281865438
GWAS Ctlg	rs281865438

Max Magnitude

3

ClinVar
Risk	rs281865438(C;C)
Alt	rs281865438(C;C)
Reference	Rs281865438(T;T)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103306573A>G
CLNSRC	ClinVar
CLNACC	RCV000106347.1,