rs28999114
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs28999114(A;G) |
Make rs28999114(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 185144963 |
Gene | SLC25A4 |
is a | snp |
is | mentioned by |
dbSNP | rs28999114 |
dbSNP (classic) | rs28999114 |
ClinGen | rs28999114 |
ebi | rs28999114 |
HLI | rs28999114 |
Exac | rs28999114 |
Gnomad | rs28999114 |
Varsome | rs28999114 |
LitVar | rs28999114 |
Map | rs28999114 |
PheGenI | rs28999114 |
Biobank | rs28999114 |
1000 genomes | rs28999114 |
hgdp | rs28999114 |
ensembl | rs28999114 |
geneview | rs28999114 |
scholar | rs28999114 |
rs28999114 | |
pharmgkb | rs28999114 |
gwascentral | rs28999114 |
openSNP | rs28999114 |
23andMe | rs28999114 |
SNPshot | rs28999114 |
SNPdbe | rs28999114 |
MSV3d | rs28999114 |
GWAS Ctlg | rs28999114 |
Max Magnitude | 0 |
OMIM | 103220 |
Desc | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2 |
Variant | 0004 |
Related | also |
ClinVar | |
---|---|
Risk | rs28999114(G;G) |
Alt | rs28999114(G;G) |
Reference | Rs28999114(A;A) |
Significance | Pathogenic |
Disease | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
Variation | info |
Gene | SLC25A4 |
CLNDBN | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.186066117A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019910.29, |