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rs80356542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356542(A;A)
Make rs80356542(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position100989162
GeneC10orf2, MRPL43
is asnp
is mentioned by
dbSNPrs80356542
ebirs80356542
HLIrs80356542
Exacrs80356542
Varsomers80356542
Maprs80356542
PheGenIrs80356542
hapmaprs80356542
1000 genomesrs80356542
hgdprs80356542
ensemblrs80356542
gopubmedrs80356542
geneviewrs80356542
scholarrs80356542
googlers80356542
pharmgkbrs80356542
gwascentralrs80356542
openSNPrs80356542
23andMers80356542
23andMe allrs80356542
SNP Nexus

SNPshotrs80356542
SNPdbers80356542
MSV3drs80356542
GWAS Ctlgrs80356542
Max Magnitude0
ClinVar
Risk rs80356542(A;A)
Alt rs80356542(A;A)
Reference rs80356542(G;G)
Significance 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.102748919G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020866.4,


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