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rs386834146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834146(C;T)
Make rs386834146(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989787
GeneC10orf2
is asnp
is mentioned by
dbSNPrs386834146
ebirs386834146
HLIrs386834146
Exacrs386834146
Varsomers386834146
Maprs386834146
PheGenIrs386834146
hapmaprs386834146
1000 genomesrs386834146
hgdprs386834146
ensemblrs386834146
gopubmedrs386834146
geneviewrs386834146
scholarrs386834146
googlers386834146
pharmgkbrs386834146
gwascentralrs386834146
openSNPrs386834146
23andMers386834146
23andMe allrs386834146
SNP Nexus

SNPshotrs386834146
SNPdbers386834146
MSV3drs386834146
GWAS Ctlgrs386834146
Max Magnitude0
ClinVar
Risk rs386834146(T;T)
Alt rs386834146(T;T)
Reference rs386834146(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.102749544C>T
CLNSRC ClinVar
CLNACC RCV000050140.1,


[PMID 22928142OA-icon.png] Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia.