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rs62516095

From SNPedia

Orientationminus
Geno Mag Summary
(A;C) 3 Carrier of a phenylketonuria mutation
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation
(G;G) 6 Phenyketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102843777
GenePAH
is asnp
is mentioned by
dbSNPrs62516095
ebirs62516095
HLIrs62516095
Exacrs62516095
Varsomers62516095
Maprs62516095
PheGenIrs62516095
hapmaprs62516095
1000 genomesrs62516095
hgdprs62516095
ensemblrs62516095
gopubmedrs62516095
geneviewrs62516095
scholarrs62516095
googlers62516095
pharmgkbrs62516095
gwascentralrs62516095
openSNPrs62516095
23andMers62516095
23andMe allrs62516095
SNP Nexus

SNPshotrs62516095
SNPdbers62516095
MSV3drs62516095
GWAS Ctlgrs62516095
Max Magnitude6
OMIM612349
Desc
Variant0019
Relatedalso
ClinVar
Risk rs62516095(A,G,T;A,G,T)
Alt rs62516095(A,G,T;A,G,T)
Reference rs62516095(C;C)
Significance Other
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103237555G>C; NC_000012.11:g.103237555G>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000000626.5, RCV000088745.1, RCV000078501.4, RCV000150078.4,