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rs62514958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62514958(C;G)
Make rs62514958(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102846899
GenePAH
is asnp
is mentioned by
dbSNPrs62514958
ebirs62514958
HLIrs62514958
Exacrs62514958
Varsomers62514958
Maprs62514958
PheGenIrs62514958
hapmaprs62514958
1000 genomesrs62514958
hgdprs62514958
ensemblrs62514958
gopubmedrs62514958
geneviewrs62514958
scholarrs62514958
googlers62514958
pharmgkbrs62514958
gwascentralrs62514958
openSNPrs62514958
23andMers62514958
23andMe allrs62514958
SNP Nexus

SNPshotrs62514958
SNPdbers62514958
MSV3drs62514958
GWAS Ctlgrs62514958
Max Magnitude0
OMIM612349
Desc
Variant0042
Relatedalso


ClinVar
Risk rs62514958(G;G)
Alt rs62514958(G;G)
Reference rs62514958(C;C)
Significance Pathogenic
Disease Mild non-PKU hyperphenylalanemia not provided
Variation info
Gene PAH
CLNDBN Mild non-PKU hyperphenylalanemia not provided
Reversed 1
HGVS NC_000012.11:g.103240677G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000647.2, RCV000089177.1,