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rs62642938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a phenylketonuria mutation
Make rs62642938(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102912840
GenePAH
is asnp
is mentioned by
dbSNPrs62642938
dbSNP (classic)rs62642938
ClinGenrs62642938
ebirs62642938
HLIrs62642938
Exacrs62642938
Gnomadrs62642938
Varsomers62642938
LitVarrs62642938
Maprs62642938
PheGenIrs62642938
Biobankrs62642938
1000 genomesrs62642938
hgdprs62642938
ensemblrs62642938
geneviewrs62642938
scholarrs62642938
googlers62642938
pharmgkbrs62642938
gwascentralrs62642938
openSNPrs62642938
23andMers62642938
SNPshotrs62642938
SNPdbers62642938
MSV3drs62642938
GWAS Ctlgrs62642938
Max Magnitude3
ClinVar
Risk rs62642938(T;T)
Alt rs62642938(T;T)
Reference Rs62642938(C;C)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103306618G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000088797.1,