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rs386834147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834147(C;T)
Make rs386834147(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position100988457
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs386834147
ebirs386834147
HLIrs386834147
Exacrs386834147
Varsomers386834147
Maprs386834147
PheGenIrs386834147
hapmaprs386834147
1000 genomesrs386834147
hgdprs386834147
ensemblrs386834147
gopubmedrs386834147
geneviewrs386834147
scholarrs386834147
googlers386834147
pharmgkbrs386834147
gwascentralrs386834147
openSNPrs386834147
23andMers386834147
23andMe allrs386834147
SNP Nexus

SNPshotrs386834147
SNPdbers386834147
MSV3drs386834147
GWAS Ctlgrs386834147
Max Magnitude0
ClinVar
Risk rs386834147(T;T)
Alt rs386834147(T;T)
Reference rs386834147(C;C)
Significance Probable-Pathogenic
Disease Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Variation info
Gene MRPL43 C10orf2
CLNDBN Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Reversed 0
HGVS NC_000010.10:g.102748214C>T
CLNSRC ClinVar
CLNACC RCV000050141.1,


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