rs886041080
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGCATGCCAGCAAACAGATCAG;AGCATGCCAGCAAACAGATCAG) | 0 | common in clinvar |
Chromosome | 4 |
Position | 185144768 |
Gene | SLC25A4 |
is a | snp |
is | mentioned by |
dbSNP | rs886041080 |
dbSNP (classic) | rs886041080 |
ClinGen | rs886041080 |
ebi | rs886041080 |
HLI | rs886041080 |
Exac | rs886041080 |
Gnomad | rs886041080 |
Varsome | rs886041080 |
LitVar | rs886041080 |
Map | rs886041080 |
PheGenI | rs886041080 |
Biobank | rs886041080 |
1000 genomes | rs886041080 |
hgdp | rs886041080 |
ensembl | rs886041080 |
geneview | rs886041080 |
scholar | rs886041080 |
rs886041080 | |
pharmgkb | rs886041080 |
gwascentral | rs886041080 |
openSNP | rs886041080 |
23andMe | rs886041080 |
SNPshot | rs886041080 |
SNPdbe | rs886041080 |
MSV3d | rs886041080 |
GWAS Ctlg | rs886041080 |
Max Magnitude | 0 |
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, |