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rs80356541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356541(C;T)
Make rs80356541(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989687
GeneC10orf2
is asnp
is mentioned by
dbSNPrs80356541
ebirs80356541
HLIrs80356541
Exacrs80356541
Varsomers80356541
Maprs80356541
PheGenIrs80356541
hapmaprs80356541
1000 genomesrs80356541
hgdprs80356541
ensemblrs80356541
gopubmedrs80356541
geneviewrs80356541
scholarrs80356541
googlers80356541
pharmgkbrs80356541
gwascentralrs80356541
openSNPrs80356541
23andMers80356541
23andMe allrs80356541
SNP Nexus

SNPshotrs80356541
SNPdbers80356541
MSV3drs80356541
GWAS Ctlgrs80356541
Max Magnitude0
ClinVar
Risk rs80356541(T;T)
Alt rs80356541(T;T)
Reference rs80356541(C;C)
Significance 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.102749444C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020863.1,


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