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rs281865431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865431(-;-)
Make rs281865431(-;CCTTCT)
Make rs281865431(CCTTCT;CCTTCT)
ReferenceGRCh38 38.1/142
Chromosome12
Position102894876
GenePAH
is asnp
is mentioned by
dbSNPrs281865431
ebirs281865431
HLIrs281865431
Exacrs281865431
Varsomers281865431
Maprs281865431
PheGenIrs281865431
hapmaprs281865431
1000 genomesrs281865431
hgdprs281865431
ensemblrs281865431
gopubmedrs281865431
geneviewrs281865431
scholarrs281865431
googlers281865431
pharmgkbrs281865431
gwascentralrs281865431
openSNPrs281865431
23andMers281865431
23andMe allrs281865431
SNP Nexus

SNPshotrs281865431
SNPdbers281865431
MSV3drs281865431
GWAS Ctlgrs281865431
Max Magnitude0
ClinVar
Risk rs281865431(CTTCTC;CTTCTC)
Alt rs281865431(CTTCTC;CTTCTC)
Reference rs281865431(;)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103288655_103288660dupAGAAGG
CLNSRC ClinVar
CLNACC RCV000106352.1,