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rs281865440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865440(C;T)
Make rs281865440(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102866600
GenePAH
is asnp
is mentioned by
dbSNPrs281865440
ebirs281865440
HLIrs281865440
Exacrs281865440
Varsomers281865440
Maprs281865440
PheGenIrs281865440
hapmaprs281865440
1000 genomesrs281865440
hgdprs281865440
ensemblrs281865440
gopubmedrs281865440
geneviewrs281865440
scholarrs281865440
googlers281865440
pharmgkbrs281865440
gwascentralrs281865440
openSNPrs281865440
23andMers281865440
23andMe allrs281865440
SNP Nexus

SNPshotrs281865440
SNPdbers281865440
MSV3drs281865440
GWAS Ctlgrs281865440
Max Magnitude0
ClinVar
Risk rs281865440(T;T)
Alt rs281865440(T;T)
Reference rs281865440(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103260378G>A
CLNSRC ClinVar
CLNACC RCV000111461.1,