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rs62514956

From SNPedia

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


Make rs62514956(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position102851686
GenePAH
is asnp
is mentioned by
dbSNPrs62514956
ebirs62514956
HLIrs62514956
Exacrs62514956
Varsomers62514956
Maprs62514956
PheGenIrs62514956
hapmaprs62514956
1000 genomesrs62514956
hgdprs62514956
ensemblrs62514956
gopubmedrs62514956
geneviewrs62514956
scholarrs62514956
googlers62514956
pharmgkbrs62514956
gwascentralrs62514956
openSNPrs62514956
23andMers62514956
23andMe allrs62514956
SNP Nexus

SNPshotrs62514956
SNPdbers62514956
MSV3drs62514956
GWAS Ctlgrs62514956
Max Magnitude3
ClinVar
Risk rs62514956(A;A)
Alt rs62514956(A;A)
Reference rs62514956(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103245464C>T
CLNSRC HGMD
CLNACC RCV000078537.3, RCV000150083.3,