rs1057516389

Orientation

minus

Stabilized

minus

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

Make rs1057516389(-;-)

Make rs1057516389(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

102894758

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs1057516389
dbSNP (classic)	rs1057516389
ClinGen	rs1057516389
ebi	rs1057516389
HLI	rs1057516389
Exac	rs1057516389
Gnomad	rs1057516389
Varsome	rs1057516389
LitVar	rs1057516389
Map	rs1057516389
PheGenI	rs1057516389
Biobank	rs1057516389
1000 genomes	rs1057516389
hgdp	rs1057516389
ensembl	rs1057516389
geneview	rs1057516389
scholar	rs1057516389
google	rs1057516389
pharmgkb	rs1057516389
gwascentral	rs1057516389
openSNP	rs1057516389
23andMe	rs1057516389
SNPshot	rs1057516389
SNPdbe	rs1057516389
MSV3d	rs1057516389
GWAS Ctlg	rs1057516389

Max Magnitude

0

ClinVar
Risk	rs1057516389(-;-)
Alt	rs1057516389(-;-)
Reference	Rs1057516389(C;C)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103288536delG
CLNSRC
CLNACC	RCV000410526.1,