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rs62514955

From SNPedia

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


Make rs62514955(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102852813
GenePAH
is asnp
is mentioned by
dbSNPrs62514955
ebirs62514955
HLIrs62514955
Exacrs62514955
Varsomers62514955
Maprs62514955
PheGenIrs62514955
hapmaprs62514955
1000 genomesrs62514955
hgdprs62514955
ensemblrs62514955
gopubmedrs62514955
geneviewrs62514955
scholarrs62514955
googlers62514955
pharmgkbrs62514955
gwascentralrs62514955
openSNPrs62514955
23andMers62514955
23andMe allrs62514955
SNP Nexus

SNPshotrs62514955
SNPdbers62514955
MSV3drs62514955
GWAS Ctlgrs62514955
Max Magnitude3
ClinVar
Risk rs62514955(A;A)
Alt rs62514955(A;A)
Reference rs62514955(T;T)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103246591A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000645.3, RCV000089131.1,