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

rs62514959

From SNPedia

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


Make rs62514959(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position102844424
GenePAH
is asnp
is mentioned by
dbSNPrs62514959
ebirs62514959
HLIrs62514959
Exacrs62514959
Varsomers62514959
Maprs62514959
PheGenIrs62514959
hapmaprs62514959
1000 genomesrs62514959
hgdprs62514959
ensemblrs62514959
gopubmedrs62514959
geneviewrs62514959
scholarrs62514959
googlers62514959
pharmgkbrs62514959
gwascentralrs62514959
openSNPrs62514959
23andMers62514959
23andMe allrs62514959
SNP Nexus

SNPshotrs62514959
SNPdbers62514959
MSV3drs62514959
GWAS Ctlgrs62514959
Max Magnitude3
OMIM612349
Desc
Variant0015
Relatedalso


ClinVar
Risk rs62514959(A;A)
Alt rs62514959(A;A)
Reference rs62514959(G;G)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103238202C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000609.3, RCV000089188.1,