Have questions? Visit https://www.reddit.com/r/SNPedia

rs62516097

From SNPedia

Orientationminus
Geno Mag Summary
(-;TCTCCCCCTGGAGCT) 3 Carrier of a phenylketonuria mutation
(TCTCCCCCTGGAGCT;TCTCCCCCTGGAGCT) 0 common in clinvar
Make rs62516097(-;-)
Make rs62516097(-;CTTCTCCCCCTGGAG)
Make rs62516097(CTTCTCCCCCTGGAG;CTTCTCCCCCTGGAG)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102843741
GenePAH
is asnp
is mentioned by
dbSNPrs62516097
ebirs62516097
HLIrs62516097
Exacrs62516097
Varsomers62516097
Maprs62516097
PheGenIrs62516097
hapmaprs62516097
1000 genomesrs62516097
hgdprs62516097
ensemblrs62516097
gopubmedrs62516097
geneviewrs62516097
scholarrs62516097
googlers62516097
pharmgkbrs62516097
gwascentralrs62516097
openSNPrs62516097
23andMers62516097
23andMe allrs62516097
SNP Nexus

SNPshotrs62516097
SNPdbers62516097
MSV3drs62516097
GWAS Ctlgrs62516097
Max Magnitude3
ClinVar
Risk rs62516097(;)
Alt rs62516097(;)
Reference rs62516097(TCTCCCCCTGGAGCT;TCTCCCCCTGGAGCT)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237517_103237531delAGCTCCAGGGGGAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000651.3, RCV000088753.1,