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rs199475648

From SNPedia

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


Make rs199475648(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102894740
GenePAH
is asnp
is mentioned by
dbSNPrs199475648
dbSNP (classic)rs199475648
ClinGenrs199475648
ebirs199475648
HLIrs199475648
Exacrs199475648
Gnomadrs199475648
Varsomers199475648
LitVarrs199475648
Maprs199475648
PheGenIrs199475648
Biobankrs199475648
1000 genomesrs199475648
hgdprs199475648
ensemblrs199475648
geneviewrs199475648
scholarrs199475648
googlers199475648
pharmgkbrs199475648
gwascentralrs199475648
openSNPrs199475648
23andMers199475648
SNPshotrs199475648
SNPdbers199475648
MSV3drs199475648
GWAS Ctlgrs199475648
Max Magnitude3
ClinVar
Risk rs199475648(-;-)
Alt rs199475648(-;-)
Reference Rs199475648(AAGA;AAGA)
Significance Untested
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103288518_103288521delTCTT
CLNSRC
CLNACC RCV000088899.1,