rs1057516604

Orientation

minus

Stabilized

minus

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

Make rs1057516604(-;T)

Make rs1057516604(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

102894732

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs1057516604
dbSNP (classic)	rs1057516604
ClinGen	rs1057516604
ebi	rs1057516604
HLI	rs1057516604
Exac	rs1057516604
Gnomad	rs1057516604
Varsome	rs1057516604
LitVar	rs1057516604
Map	rs1057516604
PheGenI	rs1057516604
Biobank	rs1057516604
1000 genomes	rs1057516604
hgdp	rs1057516604
ensembl	rs1057516604
geneview	rs1057516604
scholar	rs1057516604
google	rs1057516604
pharmgkb	rs1057516604
gwascentral	rs1057516604
openSNP	rs1057516604
23andMe	rs1057516604
SNPshot	rs1057516604
SNPdbe	rs1057516604
MSV3d	rs1057516604
GWAS Ctlg	rs1057516604

Max Magnitude

0

ClinVar
Risk	rs1057516604(T;T)
Alt	rs1057516604(T;T)
Reference	Rs1057516604(-;-)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103288511dupA
CLNSRC
CLNACC	RCV000409653.1,