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rs80356540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356540(A;G)
Make rs80356540(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100990474
GeneC10orf2
is asnp
is mentioned by
dbSNPrs80356540
ebirs80356540
HLIrs80356540
Exacrs80356540
Varsomers80356540
Maprs80356540
PheGenIrs80356540
hapmaprs80356540
1000 genomesrs80356540
hgdprs80356540
ensemblrs80356540
gopubmedrs80356540
geneviewrs80356540
scholarrs80356540
googlers80356540
pharmgkbrs80356540
gwascentralrs80356540
openSNPrs80356540
23andMers80356540
23andMe allrs80356540
SNP Nexus

SNPshotrs80356540
SNPdbers80356540
MSV3drs80356540
GWAS Ctlgrs80356540
Max Magnitude0
OMIM606075
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80356540(G;G)
Alt rs80356540(G;G)
Reference rs80356540(A;A)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) not provided
Variation info
Gene C10orf2
CLNDBN Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) not provided
Reversed 0
HGVS NC_000010.10:g.102750231A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020865.4, RCV000199894.2,


[PMID 16135556] Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.


[PMID 17921179] Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.