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rs121918047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918047(G;T)
Make rs121918047(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89321242
GenePOLG
is asnp
is mentioned by
dbSNPrs121918047
ebirs121918047
HLIrs121918047
Exacrs121918047
Varsomers121918047
Maprs121918047
PheGenIrs121918047
hapmaprs121918047
1000 genomesrs121918047
hgdprs121918047
ensemblrs121918047
gopubmedrs121918047
geneviewrs121918047
scholarrs121918047
googlers121918047
pharmgkbrs121918047
gwascentralrs121918047
openSNPrs121918047
23andMers121918047
23andMe allrs121918047
SNP Nexus

SNPshotrs121918047
SNPdbers121918047
MSV3drs121918047
GWAS Ctlgrs121918047
Max Magnitude0
OMIM174763
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918047(T;T)
Alt rs121918047(T;T)
Reference rs121918047(G;G)
Significance Pathogenic
Disease Progressive sclerosing poliodystrophy
Variation info
Gene POLG
CLNDBN Progressive sclerosing poliodystrophy
Reversed 1
HGVS NC_000015.9:g.89864473C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014453.25,