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rs34928857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs34928857(C;C)
Make rs34928857(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position55673071
GenePNPT1
is asnp
is mentioned by
dbSNPrs34928857
dbSNP (classic)rs34928857
ClinGenrs34928857
ebirs34928857
HLIrs34928857
Exacrs34928857
Gnomadrs34928857
Varsomers34928857
LitVarrs34928857
Maprs34928857
PheGenIrs34928857
Biobankrs34928857
1000 genomesrs34928857
hgdprs34928857
ensemblrs34928857
geneviewrs34928857
scholarrs34928857
googlers34928857
pharmgkbrs34928857
gwascentralrs34928857
openSNPrs34928857
23andMers34928857
SNPshotrs34928857
SNPdbers34928857
MSV3drs34928857
GWAS Ctlgrs34928857
Max Magnitude0
ClinVar
Risk rs34928857(C;C)
Alt rs34928857(C;C)
Reference Rs34928857(G;G)
Significance Probable-Pathogenic
Disease not specified
Variation info
Gene PNPT1
CLNDBN not specified
Reversed 1
HGVS NC_000002.11:g.55900206C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000199246.3,