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rs121918046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918046(C;T)
Make rs121918046(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89325520
GenePOLG
is asnp
is mentioned by
dbSNPrs121918046
dbSNP (old)rs121918046
ClinGenrs121918046
ebirs121918046
HLIrs121918046
Exacrs121918046
Gnomadrs121918046
Varsomers121918046
Maprs121918046
PheGenIrs121918046
Biobankrs121918046
1000 genomesrs121918046
hgdprs121918046
ensemblrs121918046
gopubmedrs121918046
geneviewrs121918046
scholarrs121918046
googlers121918046
pharmgkbrs121918046
gwascentralrs121918046
openSNPrs121918046
23andMers121918046
23andMe allrs121918046
SNP Nexus

SNPshotrs121918046
SNPdbers121918046
MSV3drs121918046
GWAS Ctlgrs121918046
Max Magnitude0
OMIM174763
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918046(T;T)
Alt rs121918046(T;T)
Reference Rs121918046(C;C)
Significance Pathogenic
Disease Sensory ataxic neuropathy
Variation info
Gene POLG
CLNDBN Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Reversed 1
HGVS NC_000015.9:g.89868751G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014446.17,