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rs1057517009

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517009(-;-)
Make rs1057517009(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102852867
GenePAH
is asnp
is mentioned by
dbSNPrs1057517009
dbSNP (old)rs1057517009
ClinGenrs1057517009
ebirs1057517009
HLIrs1057517009
Exacrs1057517009
Gnomadrs1057517009
Varsomers1057517009
Maprs1057517009
PheGenIrs1057517009
Biobankrs1057517009
1000 genomesrs1057517009
hgdprs1057517009
ensemblrs1057517009
gopubmedrs1057517009
geneviewrs1057517009
scholarrs1057517009
googlers1057517009
pharmgkbrs1057517009
gwascentralrs1057517009
openSNPrs1057517009
23andMers1057517009
23andMe allrs1057517009
SNPshotrs1057517009
SNPdbers1057517009
MSV3drs1057517009
GWAS Ctlgrs1057517009
Max Magnitude0
ClinVar
Risk rs1057517009(-;-)
Alt rs1057517009(-;-)
Reference Rs1057517009(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246645delG
CLNSRC
CLNACC RCV000409667.1,