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rs62507347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62507347(A;G)
Make rs62507347(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102894860
GenePAH
is asnp
is mentioned by
dbSNPrs62507347
ebirs62507347
HLIrs62507347
Exacrs62507347
Varsomers62507347
Maprs62507347
PheGenIrs62507347
hapmaprs62507347
1000 genomesrs62507347
hgdprs62507347
ensemblrs62507347
gopubmedrs62507347
geneviewrs62507347
scholarrs62507347
googlers62507347
pharmgkbrs62507347
gwascentralrs62507347
openSNPrs62507347
23andMers62507347
23andMe allrs62507347
SNP Nexus

SNPshotrs62507347
SNPdbers62507347
MSV3drs62507347
GWAS Ctlgrs62507347
Max Magnitude0
OMIM612349
Desc
Variant0067
Relatedalso


ClinVar
Risk rs62507347(C,G;C,G)
Alt rs62507347(C,G;C,G)
Reference rs62507347(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.103288638T>C; NC_000012.11:g.103288638T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000671.4, RCV000088878.1, RCV000088877.1,