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rs62642934

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62642934(A;G)
Make rs62642934(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102846948
GenePAH
is asnp
is mentioned by
dbSNPrs62642934
ebirs62642934
HLIrs62642934
Exacrs62642934
Varsomers62642934
Maprs62642934
PheGenIrs62642934
hapmaprs62642934
1000 genomesrs62642934
hgdprs62642934
ensemblrs62642934
gopubmedrs62642934
geneviewrs62642934
scholarrs62642934
googlers62642934
pharmgkbrs62642934
gwascentralrs62642934
openSNPrs62642934
23andMers62642934
23andMe allrs62642934
SNP Nexus

SNPshotrs62642934
SNPdbers62642934
MSV3drs62642934
GWAS Ctlgrs62642934
Max Magnitude0
OMIM612349
Desc
Variant0044
Relatedalso


ClinVar
Risk rs62642934(G;G)
Alt rs62642934(G;G)
Reference rs62642934(A;A)
Significance Pathogenic
Disease Hyperphenylalaninemia not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103240726T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000649.3, RCV000089157.2, RCV000169485.1,