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

rs76296470

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenyketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102894756
GenePAH
is asnp
is mentioned by
dbSNPrs76296470
ebirs76296470
HLIrs76296470
Exacrs76296470
Varsomers76296470
Maprs76296470
PheGenIrs76296470
hapmaprs76296470
1000 genomesrs76296470
hgdprs76296470
ensemblrs76296470
gopubmedrs76296470
geneviewrs76296470
scholarrs76296470
googlers76296470
pharmgkbrs76296470
gwascentralrs76296470
openSNPrs76296470
23andMers76296470
23andMe allrs76296470
SNP Nexus

SNPshotrs76296470
SNPdbers76296470
MSV3drs76296470
GWAS Ctlgrs76296470
Max Magnitude6
OMIM612349
Desc
Variant0005
Relatedalso
ClinVar
Risk rs76296470(T;T)
Alt rs76296470(T;T)
Reference rs76296470(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103288534G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000611.4, RCV000088898.2,