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rs62514907

From SNPedia

Orientationminus
Geno Mag Summary
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar


Make rs62514907(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102866664
GenePAH
is asnp
is mentioned by
dbSNPrs62514907
ebirs62514907
HLIrs62514907
Exacrs62514907
Varsomers62514907
Maprs62514907
PheGenIrs62514907
hapmaprs62514907
1000 genomesrs62514907
hgdprs62514907
ensemblrs62514907
gopubmedrs62514907
geneviewrs62514907
scholarrs62514907
googlers62514907
pharmgkbrs62514907
gwascentralrs62514907
openSNPrs62514907
23andMers62514907
23andMe allrs62514907
SNP Nexus

SNPshotrs62514907
SNPdbers62514907
MSV3drs62514907
GWAS Ctlgrs62514907
Max Magnitude3
ClinVar
Risk rs62514907(A;A)
Alt rs62514907(A;A)
Reference rs62514907(G;G)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103260442C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000625.4, RCV000088924.1,