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rs1057516604

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516604(-;T)
Make rs1057516604(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102894732
GenePAH
is asnp
is mentioned by
dbSNPrs1057516604
dbSNP (old)rs1057516604
ClinGenrs1057516604
ebirs1057516604
HLIrs1057516604
Exacrs1057516604
Gnomadrs1057516604
Varsomers1057516604
Maprs1057516604
PheGenIrs1057516604
Biobankrs1057516604
1000 genomesrs1057516604
hgdprs1057516604
ensemblrs1057516604
gopubmedrs1057516604
geneviewrs1057516604
scholarrs1057516604
googlers1057516604
pharmgkbrs1057516604
gwascentralrs1057516604
openSNPrs1057516604
23andMers1057516604
23andMe allrs1057516604
SNPshotrs1057516604
SNPdbers1057516604
MSV3drs1057516604
GWAS Ctlgrs1057516604
Max Magnitude0
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,