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rs62642926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;G) 3 Carrier of a phenylketonuria mutation
(G;G) 6 Phenylketonuria
ReferenceGRCh38 38.1/142
Chromosome12
Position102912842
GenePAH
is asnp
is mentioned by
dbSNPrs62642926
ebirs62642926
HLIrs62642926
Exacrs62642926
Varsomers62642926
Maprs62642926
PheGenIrs62642926
hapmaprs62642926
1000 genomesrs62642926
hgdprs62642926
ensemblrs62642926
gopubmedrs62642926
geneviewrs62642926
scholarrs62642926
googlers62642926
pharmgkbrs62642926
gwascentralrs62642926
openSNPrs62642926
23andMers62642926
23andMe allrs62642926
SNP Nexus

SNPshotrs62642926
SNPdbers62642926
MSV3drs62642926
GWAS Ctlgrs62642926
Max Magnitude6
OMIM612349
Desc
Variant0031
Relatedalso
rs62642926, also known as c.117C>G, p.Phe39Leu and F39L, represents a mutation in the PAH gene on chromosome 12.

The quite rare rs62642926(G) allele (as represented on the minus strand in GRCh37 and GRCh38) leads to phenylketonuria when inherited in two copies or as a compound heterozygote.

See also OMIM 612349.0031

This SNP is renamed as i4000470 by 23andMe.

ClinVar
Risk rs62642926(G;G)
Alt rs62642926(G;G)
Reference rs62642926(C;C)
Significance Pathogenic
Disease Phenylketonuria not provided
Variation info
Gene PAH
CLNDBN Phenylketonuria not provided
Reversed 1
HGVS NC_000012.11:g.103306620G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000636.4, RCV000078504.5,