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rs121918048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918048(C;T)
Make rs121918048(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89320953
GenePOLG
is asnp
is mentioned by
dbSNPrs121918048
ebirs121918048
HLIrs121918048
Exacrs121918048
Varsomers121918048
Maprs121918048
PheGenIrs121918048
hapmaprs121918048
1000 genomesrs121918048
hgdprs121918048
ensemblrs121918048
gopubmedrs121918048
geneviewrs121918048
scholarrs121918048
googlers121918048
pharmgkbrs121918048
gwascentralrs121918048
openSNPrs121918048
23andMers121918048
23andMe allrs121918048
SNP Nexus

SNPshotrs121918048
SNPdbers121918048
MSV3drs121918048
GWAS Ctlgrs121918048
Max Magnitude0
OMIM174763
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918048(T;T)
Alt rs121918048(T;T)
Reference rs121918048(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.89864184G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014454.25,