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rs199475631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TTT) 3 Carrier of a phenylketonuria mutation
(TTTG;TTTG) 0 common in clinvar
Make rs199475631(-;-)
Make rs199475631(TTT;TTT)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102912794
GenePAH
is asnp
is mentioned by
dbSNPrs199475631
dbSNP (classic)rs199475631
ClinGenrs199475631
ebirs199475631
HLIrs199475631
Exacrs199475631
Gnomadrs199475631
Varsomers199475631
LitVarrs199475631
Maprs199475631
PheGenIrs199475631
Biobankrs199475631
1000 genomesrs199475631
hgdprs199475631
ensemblrs199475631
geneviewrs199475631
scholarrs199475631
googlers199475631
pharmgkbrs199475631
gwascentralrs199475631
openSNPrs199475631
23andMers199475631
SNPshotrs199475631
SNPdbers199475631
MSV3drs199475631
GWAS Ctlgrs199475631
Max Magnitude3
ClinVar
Risk rs199475631(T;T) rs199475631(-;-)
Alt rs199475631(T;T) rs199475631(-;-)
Reference rs199475631(TTT;TTT)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103306572_103306574delAAA
CLNSRC
CLNACC RCV000088844.1,