rs398123059
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398123059(C;T) |
Make rs398123059(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 98875562 |
Gene | FBXL4 |
is a | snp |
is | mentioned by |
dbSNP | rs398123059 |
dbSNP (classic) | rs398123059 |
ClinGen | rs398123059 |
ebi | rs398123059 |
HLI | rs398123059 |
Exac | rs398123059 |
Gnomad | rs398123059 |
Varsome | rs398123059 |
LitVar | rs398123059 |
Map | rs398123059 |
PheGenI | rs398123059 |
Biobank | rs398123059 |
1000 genomes | rs398123059 |
hgdp | rs398123059 |
ensembl | rs398123059 |
geneview | rs398123059 |
scholar | rs398123059 |
rs398123059 | |
pharmgkb | rs398123059 |
gwascentral | rs398123059 |
openSNP | rs398123059 |
23andMe | rs398123059 |
SNPshot | rs398123059 |
SNPdbe | rs398123059 |
MSV3d | rs398123059 |
GWAS Ctlg | rs398123059 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123059(T;T) |
Alt | rs398123059(T;T) |
Reference | Rs398123059(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) |
Variation | info |
Gene | FBXL4 |
CLNDBN | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) |
Reversed | 1 |
HGVS | NC_000006.11:g.99323438G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000056327.2, |