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rs121918056

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918056(C;T)
Make rs121918056(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89330257
GenePOLG
is asnp
is mentioned by
dbSNPrs121918056
ebirs121918056
HLIrs121918056
Exacrs121918056
Varsomers121918056
Maprs121918056
PheGenIrs121918056
hapmaprs121918056
1000 genomesrs121918056
hgdprs121918056
ensemblrs121918056
gopubmedrs121918056
geneviewrs121918056
scholarrs121918056
googlers121918056
pharmgkbrs121918056
gwascentralrs121918056
openSNPrs121918056
23andMers121918056
23andMe allrs121918056
SNP Nexus

SNPshotrs121918056
SNPdbers121918056
MSV3drs121918056
GWAS Ctlgrs121918056
Max Magnitude0
OMIM174763
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121918056(T;T)
Alt rs121918056(T;T)
Reference rs121918056(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 4B
Variation info
Gene POLG
CLNDBN Mitochondrial DNA depletion syndrome 4B, MNGIE type
Reversed 1
HGVS NC_000015.9:g.89873488G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014469.18,