rs1057516914

Orientation

minus

Stabilized

minus

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

Make rs1057516914(-;-)

Make rs1057516914(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

102852912

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs1057516914
dbSNP (classic)	rs1057516914
ClinGen	rs1057516914
ebi	rs1057516914
HLI	rs1057516914
Exac	rs1057516914
Gnomad	rs1057516914
Varsome	rs1057516914
LitVar	rs1057516914
Map	rs1057516914
PheGenI	rs1057516914
Biobank	rs1057516914
1000 genomes	rs1057516914
hgdp	rs1057516914
ensembl	rs1057516914
geneview	rs1057516914
scholar	rs1057516914
google	rs1057516914
pharmgkb	rs1057516914
gwascentral	rs1057516914
openSNP	rs1057516914
23andMe	rs1057516914
SNPshot	rs1057516914
SNPdbe	rs1057516914
MSV3d	rs1057516914
GWAS Ctlg	rs1057516914

Max Magnitude

0

ClinVar
Risk	rs1057516914(-;-)
Alt	rs1057516914(-;-)
Reference	Rs1057516914(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246690delG
CLNSRC
CLNACC	RCV000410522.1,