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rs121918054

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918054(C;C)
Make rs121918054(C;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position89323460
GenePOLG
is asnp
is mentioned by
dbSNPrs121918054
ebirs121918054
HLIrs121918054
Exacrs121918054
Varsomers121918054
Maprs121918054
PheGenIrs121918054
hapmaprs121918054
1000 genomesrs121918054
hgdprs121918054
ensemblrs121918054
gopubmedrs121918054
geneviewrs121918054
scholarrs121918054
googlers121918054
pharmgkbrs121918054
gwascentralrs121918054
openSNPrs121918054
23andMers121918054
23andMe allrs121918054
SNP Nexus

SNPshotrs121918054
SNPdbers121918054
MSV3drs121918054
GWAS Ctlgrs121918054
GMAF0.0004591
Max Magnitude0
OMIM174763
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121918054(A,C;A,C)
Alt rs121918054(A,C;A,C)
Reference rs121918054(G;G)
Significance Pathogenic
Disease Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy Mitochondrial DNA depletion syndrome 4B not provided not specified Progressive sclerosing poliodystrophy
Variation info
Gene POLG
CLNDBN Cerebellar ataxia infantile with progressive external ophthalmoplegia Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4B, MNGIE type not provided not specified Progressive sclerosing poliodystrophy
Reversed 1
HGVS NC_000015.9:g.89866691C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014467.28, RCV000174519.1, RCV000174520.1, RCV000188568.1, RCV000190616.1, RCV000233045.1,