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rs1057516699

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516699(C;T)
Make rs1057516699(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102843698
GenePAH
is asnp
is mentioned by
dbSNPrs1057516699
dbSNP (old)rs1057516699
ClinGenrs1057516699
ebirs1057516699
HLIrs1057516699
Exacrs1057516699
Gnomadrs1057516699
Varsomers1057516699
Maprs1057516699
PheGenIrs1057516699
Biobankrs1057516699
1000 genomesrs1057516699
hgdprs1057516699
ensemblrs1057516699
gopubmedrs1057516699
geneviewrs1057516699
scholarrs1057516699
googlers1057516699
pharmgkbrs1057516699
gwascentralrs1057516699
openSNPrs1057516699
23andMers1057516699
23andMe allrs1057516699
SNPshotrs1057516699
SNPdbers1057516699
MSV3drs1057516699
GWAS Ctlgrs1057516699
Max Magnitude0
ClinVar
Risk rs1057516699(T;T)
Alt rs1057516699(T;T)
Reference Rs1057516699(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103237476G>A
CLNSRC
CLNACC RCV000409716.1,