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rs281865165

From SNPedia

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


Make rs281865165(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102912804
GenePAH
is asnp
is mentioned by
dbSNPrs281865165
dbSNP (classic)rs281865165
ClinGenrs281865165
ebirs281865165
HLIrs281865165
Exacrs281865165
Gnomadrs281865165
Varsomers281865165
LitVarrs281865165
Maprs281865165
PheGenIrs281865165
Biobankrs281865165
1000 genomesrs281865165
hgdprs281865165
ensemblrs281865165
geneviewrs281865165
scholarrs281865165
googlers281865165
pharmgkbrs281865165
gwascentralrs281865165
openSNPrs281865165
23andMers281865165
SNPshotrs281865165
SNPdbers281865165
MSV3drs281865165
GWAS Ctlgrs281865165
Max Magnitude3
ClinVar
Risk rs281865165(-;-)
Alt rs281865165(-;-)
Reference Rs281865165(T;T)
Significance Untested
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103306582delA
CLNSRC
CLNACC RCV000106392.1,