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rs62642094

From SNPedia

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


Make rs62642094(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102894877
GenePAH
is asnp
is mentioned by
dbSNPrs62642094
dbSNP (classic)rs62642094
ClinGenrs62642094
ebirs62642094
HLIrs62642094
Exacrs62642094
Gnomadrs62642094
Varsomers62642094
LitVarrs62642094
Maprs62642094
PheGenIrs62642094
Biobankrs62642094
1000 genomesrs62642094
hgdprs62642094
ensemblrs62642094
geneviewrs62642094
scholarrs62642094
googlers62642094
pharmgkbrs62642094
gwascentralrs62642094
openSNPrs62642094
23andMers62642094
SNPshotrs62642094
SNPdbers62642094
MSV3drs62642094
GWAS Ctlgrs62642094
Merged fromRs199475687
Max Magnitude3
ClinVar
Risk rs62642094(TTC;TTC) rs62642094(CTT;CTT) rs62642094(-;-)
Alt rs62642094(TTC;TTC) rs62642094(CTT;CTT) rs62642094(-;-)
Reference Rs62642094(TCT;TCT)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103288655_103288657delAGA
CLNSRC
CLNACC RCV000088875.2, RCV000411181.1,