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rs62514927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a phenylketonuria mutation
Make rs62514927(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102855231
GenePAH
is asnp
is mentioned by
dbSNPrs62514927
ebirs62514927
HLIrs62514927
Exacrs62514927
Varsomers62514927
Maprs62514927
PheGenIrs62514927
hapmaprs62514927
1000 genomesrs62514927
hgdprs62514927
ensemblrs62514927
gopubmedrs62514927
geneviewrs62514927
scholarrs62514927
googlers62514927
pharmgkbrs62514927
gwascentralrs62514927
openSNPrs62514927
23andMers62514927
23andMe allrs62514927
SNP Nexus

SNPshotrs62514927
SNPdbers62514927
MSV3drs62514927
GWAS Ctlgrs62514927
Max Magnitude3
OMIM612349
Desc
Variant0013
Relatedalso


ClinVar
Risk rs62514927(G;G)
Alt rs62514927(G;G)
Reference rs62514927(A;A)
Significance Other
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103249009T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000621.5, RCV000089007.1,