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rs62514953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenyketonuria
ReferenceGRCh38 38.1/141
Chromosome12
Position102852839
GenePAH
is asnp
is mentioned by
dbSNPrs62514953
ebirs62514953
HLIrs62514953
Exacrs62514953
Varsomers62514953
Maprs62514953
PheGenIrs62514953
hapmaprs62514953
1000 genomesrs62514953
hgdprs62514953
ensemblrs62514953
gopubmedrs62514953
geneviewrs62514953
scholarrs62514953
googlers62514953
pharmgkbrs62514953
gwascentralrs62514953
openSNPrs62514953
23andMers62514953
23andMe allrs62514953
SNP Nexus

SNPshotrs62514953
SNPdbers62514953
MSV3drs62514953
GWAS Ctlgrs62514953
Max Magnitude6
OMIM612349
Desc
Variant0023
Relatedalso


ClinVar
Risk rs62514953(T;T)
Alt rs62514953(T;T)
Reference rs62514953(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246617G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000629.5, RCV000089111.1,