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rs76394784

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs76394784(A;A)
Make rs76394784(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position102894883
GenePAH
is asnp
is mentioned by
dbSNPrs76394784
dbSNP (classic)rs76394784
ClinGenrs76394784
ebirs76394784
HLIrs76394784
Exacrs76394784
Gnomadrs76394784
Varsomers76394784
LitVarrs76394784
Maprs76394784
PheGenIrs76394784
Biobankrs76394784
1000 genomesrs76394784
hgdprs76394784
ensemblrs76394784
geneviewrs76394784
scholarrs76394784
googlers76394784
pharmgkbrs76394784
gwascentralrs76394784
openSNPrs76394784
23andMers76394784
SNPshotrs76394784
SNPdbers76394784
MSV3drs76394784
GWAS Ctlgrs76394784
Max Magnitude0
ClinVar
Risk rs76394784(A;A)
Alt rs76394784(A;A)
Reference Rs76394784(T;T)
Significance Other
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 0
HGVS NC_000012.11:g.103288661T>A
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000078517.5, RCV000150091.6,