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rs281865432

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs281865432(CA;CA)
Make rs281865432(CA;TC)
ReferenceGRCh38 38.1/142
Chromosome12
Position102894802
GenePAH
is asnp
is mentioned by
dbSNPrs281865432
ebirs281865432
HLIrs281865432
Exacrs281865432
Varsomers281865432
Maprs281865432
PheGenIrs281865432
hapmaprs281865432
1000 genomesrs281865432
hgdprs281865432
ensemblrs281865432
gopubmedrs281865432
geneviewrs281865432
scholarrs281865432
googlers281865432
pharmgkbrs281865432
gwascentralrs281865432
openSNPrs281865432
23andMers281865432
23andMe allrs281865432
SNP Nexus

SNPshotrs281865432
SNPdbers281865432
MSV3drs281865432
GWAS Ctlgrs281865432
Max Magnitude0
ClinVar
Risk rs281865432(CA;CA)
Alt rs281865432(CA;CA)
Reference rs281865432(TC;TC)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103288580_103288581delGAinsTG
CLNSRC ClinVar
CLNACC RCV000106353.1,