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rs62514891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 3 Carrier of a phenylketonuria mutation
(A;T) 3 Carrier of a phenylketonuria mutation
Make rs62514891(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102917130
GenePAH
is asnp
is mentioned by
dbSNPrs62514891
ebirs62514891
HLIrs62514891
Exacrs62514891
Varsomers62514891
Maprs62514891
PheGenIrs62514891
hapmaprs62514891
1000 genomesrs62514891
hgdprs62514891
ensemblrs62514891
gopubmedrs62514891
geneviewrs62514891
scholarrs62514891
googlers62514891
pharmgkbrs62514891
gwascentralrs62514891
openSNPrs62514891
23andMers62514891
23andMe allrs62514891
SNP Nexus

SNPshotrs62514891
SNPdbers62514891
MSV3drs62514891
GWAS Ctlgrs62514891
Max Magnitude3
OMIM612349
Desc
Variant0009
Relatedalso
ClinVar
Risk rs62514891(G,T;G,T)
Alt rs62514891(G,T;G,T)
Reference rs62514891(A;A)
Significance Other
Disease not provided Phenylketonuria Hyperphenylalaninemia
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria Hyperphenylalaninemia, non-pku
Reversed 1
HGVS NC_000012.11:g.103310908T>A; NC_000012.11:g.103310908T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000088869.1, RCV000000616.6, RCV000000617.4, RCV000088868.1,