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rs118192099

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118192099(C;C)
Make rs118192099(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position8356
GeneFAM160B1
is asnp
is mentioned by
dbSNPrs118192099
ebirs118192099
HLIrs118192099
Exacrs118192099
Varsomers118192099
Maprs118192099
PheGenIrs118192099
hapmaprs118192099
1000 genomesrs118192099
hgdprs118192099
ensemblrs118192099
gopubmedrs118192099
geneviewrs118192099
scholarrs118192099
googlers118192099
pharmgkbrs118192099
gwascentralrs118192099
openSNPrs118192099
23andMers118192099
23andMe allrs118192099
SNP Nexus

SNPshotrs118192099
SNPdbers118192099
MSV3drs118192099
GWAS Ctlgrs118192099
Max Magnitude0
ClinVar
Risk rs118192099(C;C)
Alt rs118192099(C;C)
Reference rs118192099(T;T)
Significance Pathogenic
Disease Myoclonus with epilepsy with ragged red fibers MERRF/MELAS overlap syndrome
Variation info
Gene
CLNDBN Myoclonus with epilepsy with ragged red fibers MERRF/MELAS overlap syndrome
Reversed 0
HGVS NC_012920.1:m.8356T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010195.5, RCV000010196.5,