rs1057516699

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057516699(C;T)

Make rs1057516699(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

102843698

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs1057516699
dbSNP (classic)	rs1057516699
ClinGen	rs1057516699
ebi	rs1057516699
HLI	rs1057516699
Exac	rs1057516699
Gnomad	rs1057516699
Varsome	rs1057516699
LitVar	rs1057516699
Map	rs1057516699
PheGenI	rs1057516699
Biobank	rs1057516699
1000 genomes	rs1057516699
hgdp	rs1057516699
ensembl	rs1057516699
geneview	rs1057516699
scholar	rs1057516699
google	rs1057516699
pharmgkb	rs1057516699
gwascentral	rs1057516699
openSNP	rs1057516699
23andMe	rs1057516699
SNPshot	rs1057516699
SNPdbe	rs1057516699
MSV3d	rs1057516699
GWAS Ctlg	rs1057516699

Max Magnitude

0

ClinVar
Risk	rs1057516699(T;T)
Alt	rs1057516699(T;T)
Reference	Rs1057516699(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103237476G>A
CLNSRC
CLNACC	RCV000409716.1,