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rs62514893

From SNPedia

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


Make rs62514893(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position102917128
GenePAH
is asnp
is mentioned by
dbSNPrs62514893
ebirs62514893
HLIrs62514893
Exacrs62514893
Varsomers62514893
Maprs62514893
PheGenIrs62514893
hapmaprs62514893
1000 genomesrs62514893
hgdprs62514893
ensemblrs62514893
gopubmedrs62514893
geneviewrs62514893
scholarrs62514893
googlers62514893
pharmgkbrs62514893
gwascentralrs62514893
openSNPrs62514893
23andMers62514893
23andMe allrs62514893
SNP Nexus

SNPshotrs62514893
SNPdbers62514893
MSV3drs62514893
GWAS Ctlgrs62514893
Max Magnitude3
OMIM612349
Desc
Variant0048
Relatedalso


ClinVar
Risk rs62514893(A;A)
Alt rs62514893(A;A)
Reference rs62514893(G;G)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103310906C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000653.3, RCV000088911.1,