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rs199475565

From SNPedia

Orientationminus
Geno Mag Summary
(-;TTC) 3 Carrier of a phenylketonuria mutation
Make rs199475565(-;-)
Make rs199475565(TTC;TTC)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102912842
GenePAH
is asnp
is mentioned by
dbSNPrs199475565
ebirs199475565
HLIrs199475565
Exacrs199475565
Varsomers199475565
Maprs199475565
PheGenIrs199475565
hapmaprs199475565
1000 genomesrs199475565
hgdprs199475565
ensemblrs199475565
gopubmedrs199475565
geneviewrs199475565
scholarrs199475565
googlers199475565
pharmgkbrs199475565
gwascentralrs199475565
openSNPrs199475565
23andMers199475565
23andMe allrs199475565
SNP Nexus

SNPshotrs199475565
SNPdbers199475565
MSV3drs199475565
GWAS Ctlgrs199475565
Max Magnitude3
ClinVar
Risk rs199475565(;)
Alt rs199475565(;)
Reference rs199475565(TCT;TCT)
Significance Other
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103306619_103306621delAGA
CLNSRC
CLNACC RCV000169302.2, RCV000186077.1,