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rs794726656

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTTCTTCCTGTAGG;GTTCTTCCTGTAGG) 0 common in clinvar
Make rs794726656(-;-)
Make rs794726656(-;GTTCTTCCTGTAGG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position112233478
GenePTS
is asnp
is mentioned by
dbSNPrs794726656
dbSNP (old)rs794726656
ClinGenrs794726656
ebirs794726656
HLIrs794726656
Exacrs794726656
Gnomadrs794726656
Varsomers794726656
Maprs794726656
PheGenIrs794726656
Biobankrs794726656
1000 genomesrs794726656
hgdprs794726656
ensemblrs794726656
gopubmedrs794726656
geneviewrs794726656
scholarrs794726656
googlers794726656
pharmgkbrs794726656
gwascentralrs794726656
openSNPrs794726656
23andMers794726656
23andMe allrs794726656
SNP Nexus

SNPshotrs794726656
SNPdbers794726656
MSV3drs794726656
GWAS Ctlgrs794726656
Max Magnitude0
ClinVar
Risk rs794726656(-;-)
Alt rs794726656(-;-)
Reference Rs794726656(GTTCTTCCTGTAGG;GTTCTTCCTGTAGG)
Significance Pathogenic
Disease Hyperphenylalaninemia
Variation info
Gene PTS
CLNDBN Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
Reversed 0
HGVS NC_000011.9:g.112104201_112104214delGTTCTTCCTGTAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000507.3,