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rs62642933

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 6 Phenyketonuria
(G;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome12
Position102851703
GenePAH
is asnp
is mentioned by
dbSNPrs62642933
ebirs62642933
HLIrs62642933
Exacrs62642933
Varsomers62642933
Maprs62642933
PheGenIrs62642933
hapmaprs62642933
1000 genomesrs62642933
hgdprs62642933
ensemblrs62642933
gopubmedrs62642933
geneviewrs62642933
scholarrs62642933
googlers62642933
pharmgkbrs62642933
gwascentralrs62642933
openSNPrs62642933
23andMers62642933
23andMe allrs62642933
SNP Nexus

SNPshotrs62642933
SNPdbers62642933
MSV3drs62642933
GWAS Ctlgrs62642933
Max Magnitude6
OMIM612349
Desc
Variant0039
Relatedalso


ClinVar
Risk rs62642933(G;G)
Alt rs62642933(G;G)
Reference rs62642933(T;T)
Significance Other
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103245481A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000644.6, RCV000089148.2,