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rs62509020

From SNPedia

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


Make rs62509020(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102839223
GenePAH
is asnp
is mentioned by
dbSNPrs62509020
dbSNP (classic)rs62509020
ClinGenrs62509020
ebirs62509020
HLIrs62509020
Exacrs62509020
Gnomadrs62509020
Varsomers62509020
LitVarrs62509020
Maprs62509020
PheGenIrs62509020
Biobankrs62509020
1000 genomesrs62509020
hgdprs62509020
ensemblrs62509020
geneviewrs62509020
scholarrs62509020
googlers62509020
pharmgkbrs62509020
gwascentralrs62509020
openSNPrs62509020
23andMers62509020
SNPshotrs62509020
SNPdbers62509020
MSV3drs62509020
GWAS Ctlgrs62509020
Max Magnitude3
ClinVar
Risk rs62509020(C;C)
Alt rs62509020(C;C)
Reference Rs62509020(T;T)
Significance Probable-non-pathogenic
Disease not provided not specified
Variation info
Gene PAH
CLNDBN not provided not specified
Reversed 1
HGVS NC_000012.11:g.103233001A>G
CLNSRC
CLNACC RCV000088832.1, RCV000423424.1,