rs1057516377

Orientation

minus

Stabilized

minus

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

Make rs1057516377(-;T)

Make rs1057516377(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

102840416

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs1057516377
dbSNP (classic)	rs1057516377
ClinGen	rs1057516377
ebi	rs1057516377
HLI	rs1057516377
Exac	rs1057516377
Gnomad	rs1057516377
Varsome	rs1057516377
LitVar	rs1057516377
Map	rs1057516377
PheGenI	rs1057516377
Biobank	rs1057516377
1000 genomes	rs1057516377
hgdp	rs1057516377
ensembl	rs1057516377
geneview	rs1057516377
scholar	rs1057516377
google	rs1057516377
pharmgkb	rs1057516377
gwascentral	rs1057516377
openSNP	rs1057516377
23andMe	rs1057516377
SNPshot	rs1057516377
SNPdbe	rs1057516377
MSV3d	rs1057516377
GWAS Ctlg	rs1057516377

Max Magnitude

0

ClinVar
Risk	rs1057516377(T;T)
Alt	rs1057516377(T;T)
Reference	Rs1057516377(-;-)
Significance	Probable-Pathogenic
Disease	Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103234195dupA
CLNSRC
CLNACC	RCV000410563.1,