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rs118192100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118192100(A;A)
Make rs118192100(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position8363
GeneFAM160B1
is asnp
is mentioned by
dbSNPrs118192100
ebirs118192100
HLIrs118192100
Exacrs118192100
Varsomers118192100
Maprs118192100
PheGenIrs118192100
hapmaprs118192100
1000 genomesrs118192100
hgdprs118192100
ensemblrs118192100
gopubmedrs118192100
geneviewrs118192100
scholarrs118192100
googlers118192100
pharmgkbrs118192100
gwascentralrs118192100
openSNPrs118192100
23andMers118192100
23andMe allrs118192100
SNP Nexus

SNPshotrs118192100
SNPdbers118192100
MSV3drs118192100
GWAS Ctlgrs118192100
Max Magnitude0
ClinVar
Risk rs118192100(A;A)
Alt rs118192100(A;A)
Reference rs118192100(G;G)
Significance Pathogenic
Disease Cardiomyopathy and Deafness Leigh syndrome Myoclonus with epilepsy with ragged red fibers
Variation info
Gene
CLNDBN Cardiomyopathy and Deafness Leigh syndrome Myoclonus with epilepsy with ragged red fibers
Reversed 0
HGVS NC_012920.1:m.8363G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010197.5, RCV000144004.2, RCV000192053.1,