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rs121918049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918049(C;C)
Make rs121918049(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position89319053
GenePOLG
is asnp
is mentioned by
dbSNPrs121918049
ebirs121918049
HLIrs121918049
Exacrs121918049
Varsomers121918049
Maprs121918049
PheGenIrs121918049
hapmaprs121918049
1000 genomesrs121918049
hgdprs121918049
ensemblrs121918049
gopubmedrs121918049
geneviewrs121918049
scholarrs121918049
googlers121918049
pharmgkbrs121918049
gwascentralrs121918049
openSNPrs121918049
23andMers121918049
23andMe allrs121918049
SNP Nexus

SNPshotrs121918049
SNPdbers121918049
MSV3drs121918049
GWAS Ctlgrs121918049
Max Magnitude0
OMIM174763
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918049(A,C,T;A,C,T)
Alt rs121918049(A,C,T;A,C,T)
Reference rs121918049(G;G)
Significance Pathogenic
Disease Sensory ataxic neuropathy not provided Progressive sclerosing poliodystrophy
Variation info
Gene POLG
CLNDBN Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis not provided Progressive sclerosing poliodystrophy
Reversed 1
HGVS NC_000015.9:g.89862284C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014455.25, RCV000188604.1, RCV000226986.1,