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rs78655458

From SNPedia

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


Make rs78655458(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position102852828
GenePAH
is asnp
is mentioned by
dbSNPrs78655458
ebirs78655458
HLIrs78655458
Exacrs78655458
Varsomers78655458
Maprs78655458
PheGenIrs78655458
hapmaprs78655458
1000 genomesrs78655458
hgdprs78655458
ensemblrs78655458
gopubmedrs78655458
geneviewrs78655458
scholarrs78655458
googlers78655458
pharmgkbrs78655458
gwascentralrs78655458
openSNPrs78655458
23andMers78655458
23andMe allrs78655458
SNP Nexus

SNPshotrs78655458
SNPdbers78655458
MSV3drs78655458
GWAS Ctlgrs78655458
Merged fromRs28934276
Max Magnitude3
OMIM612349
Desc
Variant0029
Relatedalso
ClinVar
Risk rs78655458(G;G)
Alt rs78655458(G;G)
Reference rs78655458(T;T)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246606A>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000634.6, RCV000078531.4,