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rs62642935

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62642935(C;T)
Make rs62642935(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102846938
GenePAH
is asnp
is mentioned by
dbSNPrs62642935
ebirs62642935
HLIrs62642935
Exacrs62642935
Varsomers62642935
Maprs62642935
PheGenIrs62642935
hapmaprs62642935
1000 genomesrs62642935
hgdprs62642935
ensemblrs62642935
gopubmedrs62642935
geneviewrs62642935
scholarrs62642935
googlers62642935
pharmgkbrs62642935
gwascentralrs62642935
openSNPrs62642935
23andMers62642935
23andMe allrs62642935
SNP Nexus

SNPshotrs62642935
SNPdbers62642935
MSV3drs62642935
GWAS Ctlgrs62642935
Max Magnitude0
ClinVar
Risk rs62642935(A,T;A,T)
Alt rs62642935(A,T;A,T)
Reference rs62642935(C;C)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103240716G>A; NC_000012.11:g.103240716G>T
CLNSRC HGMD
CLNACC RCV000078538.3, RCV000150082.3, RCV000089160.1,