rs111033576
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033576(C;C) |
Make rs111033576(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 100989271 |
Gene | C10orf2, MRPL43, TWNK |
is a | snp |
is | mentioned by |
dbSNP | rs111033576 |
dbSNP (classic) | rs111033576 |
ClinGen | rs111033576 |
ebi | rs111033576 |
HLI | rs111033576 |
Exac | rs111033576 |
Gnomad | rs111033576 |
Varsome | rs111033576 |
LitVar | rs111033576 |
Map | rs111033576 |
PheGenI | rs111033576 |
Biobank | rs111033576 |
1000 genomes | rs111033576 |
hgdp | rs111033576 |
ensembl | rs111033576 |
geneview | rs111033576 |
scholar | rs111033576 |
rs111033576 | |
pharmgkb | rs111033576 |
gwascentral | rs111033576 |
openSNP | rs111033576 |
23andMe | rs111033576 |
SNPshot | rs111033576 |
SNPdbe | rs111033576 |
MSV3d | rs111033576 |
GWAS Ctlg | rs111033576 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033576(C;C) |
Alt | rs111033576(C;C) |
Reference | Rs111033576(G;G) |
Significance | Pathogenic |
Disease | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
Variation | info |
Gene | MRPL43 C10orf2 |
CLNDBN | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 |
Reversed | 0 |
HGVS | NC_000010.10:g.102749028G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004884.5, |