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rs80356544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356544(C;T)
Make rs80356544(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989770
GeneC10orf2
is asnp
is mentioned by
dbSNPrs80356544
ebirs80356544
HLIrs80356544
Exacrs80356544
Varsomers80356544
Maprs80356544
PheGenIrs80356544
hapmaprs80356544
1000 genomesrs80356544
hgdprs80356544
ensemblrs80356544
gopubmedrs80356544
geneviewrs80356544
scholarrs80356544
googlers80356544
pharmgkbrs80356544
gwascentralrs80356544
openSNPrs80356544
23andMers80356544
23andMe allrs80356544
SNP Nexus

SNPshotrs80356544
SNPdbers80356544
MSV3drs80356544
GWAS Ctlgrs80356544
Max Magnitude0
OMIM606075
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80356544(T;T)
Alt rs80356544(T;T)
Reference rs80356544(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Mitochondrial DNA-depletion syndrome 3
Variation info
Gene C10orf2
CLNDBN Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Mitochondrial DNA-depletion syndrome 3, hepatocerebral
Reversed 0
HGVS NC_000010.10:g.102749527C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004889.3, RCV000020864.1,


[PMID 17722119] Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.