rs1042503

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	Benign polymorphism
(A;G)	1	Benign polymorphism
(G;G)	0	common in clinvar

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

102852922

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs1042503
dbSNP (classic)	rs1042503
ClinGen	rs1042503
ebi	rs1042503
HLI	rs1042503
Exac	rs1042503
Gnomad	rs1042503
Varsome	rs1042503
LitVar	rs1042503
Map	rs1042503
PheGenI	rs1042503
Biobank	rs1042503
1000 genomes	rs1042503
hgdp	rs1042503
ensembl	rs1042503
geneview	rs1042503
scholar	rs1042503
google	rs1042503
pharmgkb	rs1042503
gwascentral	rs1042503
openSNP	rs1042503
23andMe	rs1042503
SNPshot	rs1042503
SNPdbe	rs1042503
MSV3d	rs1042503
GWAS Ctlg	rs1042503

Max Magnitude

1

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	Rs1042503(A;A)
Alt	Rs1042503(A;A)
Reference	Rs1042503(G;G)
Significance	Probable-Pathogenic
Disease	not specified not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not specified not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246700C>T
CLNSRC
CLNACC	RCV000078529.6, RCV000089066.1, RCV000297921.1, RCV000454199.1,