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rs1057516389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516389(-;-)
Make rs1057516389(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102894758
GenePAH
is asnp
is mentioned by
dbSNPrs1057516389
dbSNP (old)rs1057516389
ClinGenrs1057516389
ebirs1057516389
HLIrs1057516389
Exacrs1057516389
Gnomadrs1057516389
Varsomers1057516389
LitVarrs1057516389
Maprs1057516389
PheGenIrs1057516389
Biobankrs1057516389
1000 genomesrs1057516389
hgdprs1057516389
ensemblrs1057516389
gopubmedrs1057516389
geneviewrs1057516389
scholarrs1057516389
googlers1057516389
pharmgkbrs1057516389
gwascentralrs1057516389
openSNPrs1057516389
23andMers1057516389
23andMe allrs1057516389
SNPshotrs1057516389
SNPdbers1057516389
MSV3drs1057516389
GWAS Ctlgrs1057516389
Max Magnitude0
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,