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rs62516101

From SNPedia

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


Make rs62516101(A;A)
ReferenceGRCh38 38.1/142
Chromosome12
Position102843683
GenePAH
is asnp
is mentioned by
dbSNPrs62516101
ebirs62516101
HLIrs62516101
Exacrs62516101
Varsomers62516101
Maprs62516101
PheGenIrs62516101
hapmaprs62516101
1000 genomesrs62516101
hgdprs62516101
ensemblrs62516101
gopubmedrs62516101
geneviewrs62516101
scholarrs62516101
googlers62516101
pharmgkbrs62516101
gwascentralrs62516101
openSNPrs62516101
23andMers62516101
23andMe allrs62516101
SNP Nexus

SNPshotrs62516101
SNPdbers62516101
MSV3drs62516101
GWAS Ctlgrs62516101
Max Magnitude3
OMIM612349
Desc
Variant0045
Relatedalso
ClinVar
Risk rs62516101(A,C,T;A,C,T)
Alt rs62516101(A,C,T;A,C,T)
Reference rs62516101(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103237461C>G; NC_000012.11:g.103237461C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000088775.1, RCV000000650.7, RCV000088774.2,