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rs281865446

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865446(A;G)
Make rs281865446(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102851712
GenePAH
is asnp
is mentioned by
dbSNPrs281865446
dbSNP (classic)rs281865446
ClinGenrs281865446
ebirs281865446
HLIrs281865446
Exacrs281865446
Gnomadrs281865446
Varsomers281865446
LitVarrs281865446
Maprs281865446
PheGenIrs281865446
Biobankrs281865446
1000 genomesrs281865446
hgdprs281865446
ensemblrs281865446
geneviewrs281865446
scholarrs281865446
googlers281865446
pharmgkbrs281865446
gwascentralrs281865446
openSNPrs281865446
23andMers281865446
SNPshotrs281865446
SNPdbers281865446
MSV3drs281865446
GWAS Ctlgrs281865446
Max Magnitude0
ClinVar
Risk rs281865446(G;G)
Alt rs281865446(G;G)
Reference Rs281865446(A;A)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103245490T>C
CLNSRC ClinVar
CLNACC RCV000106372.1,