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rs62514928

From SNPedia

Orientationminus
Geno Mag Summary
(G;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar
Make rs62514928(C;C)
Make rs62514928(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position102855230
GenePAH
is asnp
is mentioned by
dbSNPrs62514928
ebirs62514928
HLIrs62514928
Exacrs62514928
Varsomers62514928
Maprs62514928
PheGenIrs62514928
hapmaprs62514928
1000 genomesrs62514928
hgdprs62514928
ensemblrs62514928
gopubmedrs62514928
geneviewrs62514928
scholarrs62514928
googlers62514928
pharmgkbrs62514928
gwascentralrs62514928
openSNPrs62514928
23andMers62514928
23andMe allrs62514928
SNP Nexus

SNPshotrs62514928
SNPdbers62514928
MSV3drs62514928
GWAS Ctlgrs62514928
Max Magnitude3
ClinVar
Risk rs62514928(C,G;C,G)
Alt rs62514928(C,G;C,G)
Reference rs62514928(T;T)
Significance Probable-non-pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103249008A>C; NC_000012.11:g.103249008A>G
CLNSRC
CLNACC RCV000089008.1, RCV000106363.1,