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rs62642937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62642937(C;T)
Make rs62642937(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position102843706
GenePAH
is asnp
is mentioned by
dbSNPrs62642937
ebirs62642937
HLIrs62642937
Exacrs62642937
Varsomers62642937
Maprs62642937
PheGenIrs62642937
hapmaprs62642937
1000 genomesrs62642937
hgdprs62642937
ensemblrs62642937
gopubmedrs62642937
geneviewrs62642937
scholarrs62642937
googlers62642937
pharmgkbrs62642937
gwascentralrs62642937
openSNPrs62642937
23andMers62642937
23andMe allrs62642937
SNP Nexus

SNPshotrs62642937
SNPdbers62642937
MSV3drs62642937
GWAS Ctlgrs62642937
Max Magnitude0
OMIM612349
Desc
Variant0054
Relatedalso


ClinVar
Risk rs62642937(T;T)
Alt rs62642937(T;T)
Reference rs62642937(C;C)
Significance Other
Disease Hyperphenylalaninemia not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103237484G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000660.4, RCV000078502.5, RCV000150077.5,