Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516377

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516377(-;T)
Make rs1057516377(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102840416
GenePAH
is asnp
is mentioned by
dbSNPrs1057516377
dbSNP (old)rs1057516377
ClinGenrs1057516377
ebirs1057516377
HLIrs1057516377
Exacrs1057516377
Gnomadrs1057516377
Varsomers1057516377
Maprs1057516377
PheGenIrs1057516377
Biobankrs1057516377
1000 genomesrs1057516377
hgdprs1057516377
ensemblrs1057516377
gopubmedrs1057516377
geneviewrs1057516377
scholarrs1057516377
googlers1057516377
pharmgkbrs1057516377
gwascentralrs1057516377
openSNPrs1057516377
23andMers1057516377
23andMe allrs1057516377
SNPshotrs1057516377
SNPdbers1057516377
MSV3drs1057516377
GWAS Ctlgrs1057516377
Max Magnitude0
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,