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rs118192098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118192098(A;G)
Make rs118192098(G;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position8344
GeneFAM160B1
is asnp
is mentioned by
dbSNPrs118192098
ebirs118192098
HLIrs118192098
Exacrs118192098
Varsomers118192098
Maprs118192098
PheGenIrs118192098
hapmaprs118192098
1000 genomesrs118192098
hgdprs118192098
ensemblrs118192098
gopubmedrs118192098
geneviewrs118192098
scholarrs118192098
googlers118192098
pharmgkbrs118192098
gwascentralrs118192098
openSNPrs118192098
23andMers118192098
23andMe allrs118192098
SNP Nexus

SNPshotrs118192098
SNPdbers118192098
MSV3drs118192098
GWAS Ctlgrs118192098
GMAF0.0009355
Max Magnitude0
ClinVar
Risk rs118192098(G;G)
Alt rs118192098(G;G)
Reference rs118192098(A;A)
Significance Pathogenic
Disease Myoclonus with epilepsy with ragged red fibers Leigh syndrome Parkinson disease not provided
Variation info
Gene
CLNDBN Myoclonus with epilepsy with ragged red fibers Leigh syndrome Parkinson disease, mitochondrial not provided
Reversed 0
HGVS NC_012920.1:m.8344A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010192.7, RCV000010193.7, RCV000010194.5, RCV000224965.1,