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rs79931499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation
Make rs79931499(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102840477
GenePAH
is asnp
is mentioned by
dbSNPrs79931499
ebirs79931499
HLIrs79931499
Exacrs79931499
Varsomers79931499
Maprs79931499
PheGenIrs79931499
hapmaprs79931499
1000 genomesrs79931499
hgdprs79931499
ensemblrs79931499
gopubmedrs79931499
geneviewrs79931499
scholarrs79931499
googlers79931499
pharmgkbrs79931499
gwascentralrs79931499
openSNPrs79931499
23andMers79931499
23andMe allrs79931499
SNP Nexus

SNPshotrs79931499
SNPdbers79931499
MSV3drs79931499
GWAS Ctlgrs79931499
Merged fromRs28934899
Max Magnitude3
OMIM612349
Desc
Variant0016
Relatedalso
ClinVar
Risk rs79931499(G,T;G,T)
Alt rs79931499(G,T;G,T)
Reference rs79931499(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 0
HGVS NC_000012.11:g.103234255C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000623.3, RCV000088813.1,