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rs62642930

From SNPedia

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


Make rs62642930(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position102852893
GenePAH
is asnp
is mentioned by
dbSNPrs62642930
ebirs62642930
HLIrs62642930
Exacrs62642930
Varsomers62642930
Maprs62642930
PheGenIrs62642930
hapmaprs62642930
1000 genomesrs62642930
hgdprs62642930
ensemblrs62642930
gopubmedrs62642930
geneviewrs62642930
scholarrs62642930
googlers62642930
pharmgkbrs62642930
gwascentralrs62642930
openSNPrs62642930
23andMers62642930
23andMe allrs62642930
SNP Nexus

SNPshotrs62642930
SNPdbers62642930
MSV3drs62642930
GWAS Ctlgrs62642930
Max Magnitude3
OMIM612349
Desc
Variant0026
Relatedalso


ClinVar
Risk rs62642930(C;C)
Alt rs62642930(C;C)
Reference rs62642930(T;T)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246671A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000631.3, RCV000089083.1,