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rs62508689

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62508689(A;G)
Make rs62508689(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102844333
GenePAH
is asnp
is mentioned by
dbSNPrs62508689
ebirs62508689
HLIrs62508689
Exacrs62508689
Varsomers62508689
Maprs62508689
PheGenIrs62508689
hapmaprs62508689
1000 genomesrs62508689
hgdprs62508689
ensemblrs62508689
gopubmedrs62508689
geneviewrs62508689
scholarrs62508689
googlers62508689
pharmgkbrs62508689
gwascentralrs62508689
openSNPrs62508689
23andMers62508689
23andMe allrs62508689
SNP Nexus

SNPshotrs62508689
SNPdbers62508689
MSV3drs62508689
GWAS Ctlgrs62508689
Max Magnitude0
ClinVar
Risk rs62508689(C,G;C,G)
Alt rs62508689(C,G;C,G)
Reference rs62508689(A;A)
Significance Pathogenic
Disease Hyperphenylalaninemia not provided
Variation info
Gene PAH
CLNDBN Hyperphenylalaninemia, non-pku not provided
Reversed 1
HGVS NC_000012.11:g.103238111T>C; NC_000012.11:g.103238111T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000665.3, RCV000088736.1, RCV000088735.1,