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rs74486803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74486803(A;A)
Make rs74486803(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position102855315
GenePAH
is asnp
is mentioned by
dbSNPrs74486803
ebirs74486803
HLIrs74486803
Exacrs74486803
Varsomers74486803
Maprs74486803
PheGenIrs74486803
hapmaprs74486803
1000 genomesrs74486803
hgdprs74486803
ensemblrs74486803
gopubmedrs74486803
geneviewrs74486803
scholarrs74486803
googlers74486803
pharmgkbrs74486803
gwascentralrs74486803
openSNPrs74486803
23andMers74486803
23andMe allrs74486803
SNP Nexus

SNPshotrs74486803
SNPdbers74486803
MSV3drs74486803
GWAS Ctlgrs74486803
Max Magnitude0
OMIM612349
Desc
Variant0058
Relatedalso
ClinVar
Risk rs74486803(A,G,T;A,G,T)
Alt rs74486803(A,G,T;A,G,T)
Reference rs74486803(C;C)
Significance Pathogenic
Disease Hyperphenylalaninemia not provided
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided
Reversed 0
HGVS NC_000012.11:g.103249093C>A; NC_000012.11:g.103249093C>G; NC_000012.11:g.103249093C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000663.3, RCV000088974.2, RCV000088973.1, RCV000088972.1,