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rs121918052

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918052(C;C)
Make rs121918052(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position89327006
GeneMIR6766, POLG
is asnp
is mentioned by
dbSNPrs121918052
ebirs121918052
HLIrs121918052
Exacrs121918052
Varsomers121918052
Maprs121918052
PheGenIrs121918052
hapmaprs121918052
1000 genomesrs121918052
hgdprs121918052
ensemblrs121918052
gopubmedrs121918052
geneviewrs121918052
scholarrs121918052
googlers121918052
pharmgkbrs121918052
gwascentralrs121918052
openSNPrs121918052
23andMers121918052
23andMe allrs121918052
SNP Nexus

SNPshotrs121918052
SNPdbers121918052
MSV3drs121918052
GWAS Ctlgrs121918052
Max Magnitude0
OMIM174763
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121918052(A,C;A,C)
Alt rs121918052(A,C;A,C)
Reference rs121918052(G;G)
Significance Pathogenic
Disease Myoclonic epilepsy myopathy sensory ataxia Charcot-Marie-Tooth disease not specified
Variation info
Gene MIR6766 POLG
CLNDBN Myoclonic epilepsy myopathy sensory ataxia Charcot-Marie-Tooth disease not specified
Reversed 1
HGVS NC_000015.9:g.89870237C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014464.24, RCV000144870.2, RCV000188660.2,