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rs281865434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865434(A;C)
Make rs281865434(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102844397
GenePAH
is asnp
is mentioned by
dbSNPrs281865434
dbSNP (classic)rs281865434
ClinGenrs281865434
ebirs281865434
HLIrs281865434
Exacrs281865434
Gnomadrs281865434
Varsomers281865434
LitVarrs281865434
Maprs281865434
PheGenIrs281865434
Biobankrs281865434
1000 genomesrs281865434
hgdprs281865434
ensemblrs281865434
geneviewrs281865434
scholarrs281865434
googlers281865434
pharmgkbrs281865434
gwascentralrs281865434
openSNPrs281865434
23andMers281865434
SNPshotrs281865434
SNPdbers281865434
MSV3drs281865434
GWAS Ctlgrs281865434
Max Magnitude0
ClinVar
Risk rs281865434(C;C)
Alt rs281865434(C;C)
Reference Rs281865434(A;A)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103238175T>G
CLNSRC ClinVar
CLNACC RCV000106338.1,