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rs62508727

From SNPedia

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


Make rs62508727(-;-)
ReferenceGRCh38 38.1/141
Chromosome12
Position102894801
GenePAH
is asnp
is mentioned by
dbSNPrs62508727
ebirs62508727
HLIrs62508727
Exacrs62508727
Varsomers62508727
Maprs62508727
PheGenIrs62508727
hapmaprs62508727
1000 genomesrs62508727
hgdprs62508727
ensemblrs62508727
gopubmedrs62508727
geneviewrs62508727
scholarrs62508727
googlers62508727
pharmgkbrs62508727
gwascentralrs62508727
openSNPrs62508727
23andMers62508727
23andMe allrs62508727
SNP Nexus

SNPshotrs62508727
SNPdbers62508727
MSV3drs62508727
GWAS Ctlgrs62508727
Max Magnitude3
ClinVar
Risk rs62508727(;)
Alt rs62508727(;)
Reference rs62508727(TCA;TCA)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103288579_103288581delTGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000635.4, RCV000078518.5,