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rs62642936

From SNPedia

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


Make rs62642936(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position102846932
GenePAH
is asnp
is mentioned by
dbSNPrs62642936
ebirs62642936
HLIrs62642936
Exacrs62642936
Varsomers62642936
Maprs62642936
PheGenIrs62642936
hapmaprs62642936
1000 genomesrs62642936
hgdprs62642936
ensemblrs62642936
gopubmedrs62642936
geneviewrs62642936
scholarrs62642936
googlers62642936
pharmgkbrs62642936
gwascentralrs62642936
openSNPrs62642936
23andMers62642936
23andMe allrs62642936
SNP Nexus

SNPshotrs62642936
SNPdbers62642936
MSV3drs62642936
GWAS Ctlgrs62642936
Max Magnitude3
OMIM612349
Desc
Variant0003
Relatedalso


ClinVar
Risk rs62642936(C;C)
Alt rs62642936(C;C)
Reference rs62642936(T;T)
Significance Other
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103240710A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000608.5, RCV000089164.2,