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rs886041080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCATGCCAGCAAACAGATCAG;AGCATGCCAGCAAACAGATCAG) 0 common in clinvar
Chromosome4
Position185144768
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs886041080
dbSNP (classic)rs886041080
ClinGenrs886041080
ebirs886041080
HLIrs886041080
Exacrs886041080
Gnomadrs886041080
Varsomers886041080
LitVarrs886041080
Maprs886041080
PheGenIrs886041080
Biobankrs886041080
1000 genomesrs886041080
hgdprs886041080
ensemblrs886041080
geneviewrs886041080
scholarrs886041080
googlers886041080
pharmgkbrs886041080
gwascentralrs886041080
openSNPrs886041080
23andMers886041080
SNPshotrs886041080
SNPdbers886041080
MSV3drs886041080
GWAS Ctlgrs886041080
Max Magnitude0
ClinVar
Risk rs886041080(-;-)
Alt rs886041080(-;-)
Reference Rs886041080(AGCATGCCAGCAAACAGATCAG;AGCATGCCAGCAAACAGATCAG)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type)
Variation info
Gene SLC25A4
CLNDBN Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive
Reversed 0
HGVS NC_000004.11:g.186065922_186065943del22
CLNSRC OMIM Allelic Variant
CLNACC RCV000258875.1,