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rs62514934

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62514934(A;G)
Make rs62514934(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102855180
GenePAH
is asnp
is mentioned by
dbSNPrs62514934
ebirs62514934
HLIrs62514934
Exacrs62514934
Varsomers62514934
Maprs62514934
PheGenIrs62514934
hapmaprs62514934
1000 genomesrs62514934
hgdprs62514934
ensemblrs62514934
gopubmedrs62514934
geneviewrs62514934
scholarrs62514934
googlers62514934
pharmgkbrs62514934
gwascentralrs62514934
openSNPrs62514934
23andMers62514934
23andMe allrs62514934
SNP Nexus

SNPshotrs62514934
SNPdbers62514934
MSV3drs62514934
GWAS Ctlgrs62514934
Max Magnitude0
OMIM612349
Desc
Variant0035
Relatedalso


ClinVar
Risk rs62514934(G;G)
Alt rs62514934(G;G)
Reference rs62514934(A;A)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103248958T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000640.3, RCV000089024.1,