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rs886041082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome4
Position185145863
GeneSLC25A4
is asnp
is mentioned by
dbSNPrs886041082
dbSNP (classic)rs886041082
ClinGenrs886041082
ebirs886041082
HLIrs886041082
Exacrs886041082
Gnomadrs886041082
Varsomers886041082
LitVarrs886041082
Maprs886041082
PheGenIrs886041082
Biobankrs886041082
1000 genomesrs886041082
hgdprs886041082
ensemblrs886041082
geneviewrs886041082
scholarrs886041082
googlers886041082
pharmgkbrs886041082
gwascentralrs886041082
openSNPrs886041082
23andMers886041082
SNPshotrs886041082
SNPdbers886041082
MSV3drs886041082
GWAS Ctlgrs886041082
Max Magnitude0
ClinVar
Risk rs886041082(G;G)
Alt rs886041082(G;G)
Reference Rs886041082(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type) Mitochondrial diseases
Variation info
Gene SLC25A4
CLNDBN Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant Mitochondrial diseases
Reversed 0
HGVS NC_000004.11:g.186067017C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000258874.1, RCV000491457.1,