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rs199475566

From SNPedia

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


Make rs199475566(-;-)
ReferenceGRCh38 38.1/141
Chromosome12
Position102912794
GenePAH
is asnp
is mentioned by
dbSNPrs199475566
ebirs199475566
HLIrs199475566
Exacrs199475566
Varsomers199475566
Maprs199475566
PheGenIrs199475566
hapmaprs199475566
1000 genomesrs199475566
hgdprs199475566
ensemblrs199475566
gopubmedrs199475566
geneviewrs199475566
scholarrs199475566
googlers199475566
pharmgkbrs199475566
gwascentralrs199475566
openSNPrs199475566
23andMers199475566
23andMe allrs199475566
SNP Nexus

SNPshotrs199475566
SNPdbers199475566
MSV3drs199475566
GWAS Ctlgrs199475566
Max Magnitude3
ClinVar
Risk rs199475566(;)
Alt rs199475566(;)
Reference rs199475566(T;T)
Significance Other
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103306572delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000642.5, RCV000078513.4,