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rs281865442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar


Make rs281865442(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102855251
GenePAH
is asnp
is mentioned by
dbSNPrs281865442
ebirs281865442
HLIrs281865442
Exacrs281865442
Varsomers281865442
Maprs281865442
PheGenIrs281865442
hapmaprs281865442
1000 genomesrs281865442
hgdprs281865442
ensemblrs281865442
gopubmedrs281865442
geneviewrs281865442
scholarrs281865442
googlers281865442
pharmgkbrs281865442
gwascentralrs281865442
openSNPrs281865442
23andMers281865442
23andMe allrs281865442
SNP Nexus

SNPshotrs281865442
SNPdbers281865442
MSV3drs281865442
GWAS Ctlgrs281865442
Max Magnitude3
ClinVar
Risk rs281865442(C;C)
Alt rs281865442(C;C)
Reference rs281865442(G;G)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103249029C>G
CLNSRC ClinVar
CLNACC RCV000106361.1,