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rs137893343

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137893343(C;C)
Make rs137893343(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position55672026
GenePNPT1
is asnp
is mentioned by
dbSNPrs137893343
dbSNP (classic)rs137893343
ClinGenrs137893343
ebirs137893343
HLIrs137893343
Exacrs137893343
Gnomadrs137893343
Varsomers137893343
LitVarrs137893343
Maprs137893343
PheGenIrs137893343
Biobankrs137893343
1000 genomesrs137893343
hgdprs137893343
ensemblrs137893343
geneviewrs137893343
scholarrs137893343
googlers137893343
pharmgkbrs137893343
gwascentralrs137893343
openSNPrs137893343
23andMers137893343
SNPshotrs137893343
SNPdbers137893343
MSV3drs137893343
GWAS Ctlgrs137893343
Max Magnitude0
ClinVar
Risk rs137893343(C;C)
Alt rs137893343(C;C)
Reference Rs137893343(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene PNPT1
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.55899161T>C
CLNSRC
CLNACC RCV000200039.1,