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rs121918050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918050(A;G)
Make rs121918050(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position89321743
GenePOLG
is asnp
is mentioned by
dbSNPrs121918050
ebirs121918050
HLIrs121918050
Exacrs121918050
Varsomers121918050
Maprs121918050
PheGenIrs121918050
hapmaprs121918050
1000 genomesrs121918050
hgdprs121918050
ensemblrs121918050
gopubmedrs121918050
geneviewrs121918050
scholarrs121918050
googlers121918050
pharmgkbrs121918050
gwascentralrs121918050
openSNPrs121918050
23andMers121918050
23andMe allrs121918050
SNP Nexus

SNPshotrs121918050
SNPdbers121918050
MSV3drs121918050
GWAS Ctlgrs121918050
Max Magnitude0
OMIM174763
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918050(G;G)
Alt rs121918050(G;G)
Reference rs121918050(A;A)
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.89864974T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014458.26,