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rs386834145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834145(C;G)
Make rs386834145(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989766
GeneC10orf2
is asnp
is mentioned by
dbSNPrs386834145
ebirs386834145
HLIrs386834145
Exacrs386834145
Varsomers386834145
Maprs386834145
PheGenIrs386834145
hapmaprs386834145
1000 genomesrs386834145
hgdprs386834145
ensemblrs386834145
gopubmedrs386834145
geneviewrs386834145
scholarrs386834145
googlers386834145
pharmgkbrs386834145
gwascentralrs386834145
openSNPrs386834145
23andMers386834145
23andMe allrs386834145
SNP Nexus

SNPshotrs386834145
SNPdbers386834145
MSV3drs386834145
GWAS Ctlgrs386834145
Max Magnitude0
ClinVar
Risk rs386834145(G;G)
Alt rs386834145(G;G)
Reference rs386834145(C;C)
Significance Probable-Pathogenic
Disease Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Variation info
Gene C10orf2
CLNDBN Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Reversed 0
HGVS NC_000010.10:g.102749523C>G
CLNSRC ClinVar
CLNACC RCV000050139.1,


[PMID 22353293] Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.