rs869025603
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869025603(-;TTA) |
Make rs869025603(TTA;TTA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 5 |
Position | 131187060 |
Gene | LYRM7 |
is a | snp |
is | mentioned by |
dbSNP | rs869025603 |
dbSNP (classic) | rs869025603 |
ClinGen | rs869025603 |
ebi | rs869025603 |
HLI | rs869025603 |
Exac | rs869025603 |
Gnomad | rs869025603 |
Varsome | rs869025603 |
LitVar | rs869025603 |
Map | rs869025603 |
PheGenI | rs869025603 |
Biobank | rs869025603 |
1000 genomes | rs869025603 |
hgdp | rs869025603 |
ensembl | rs869025603 |
geneview | rs869025603 |
scholar | rs869025603 |
rs869025603 | |
pharmgkb | rs869025603 |
gwascentral | rs869025603 |
openSNP | rs869025603 |
23andMe | rs869025603 |
SNPshot | rs869025603 |
SNPdbe | rs869025603 |
MSV3d | rs869025603 |
GWAS Ctlg | rs869025603 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025603(ATT;ATT) |
Alt | rs869025603(ATT;ATT) |
Reference | Rs869025603(-;-) |
Significance | Pathogenic |
Disease | Mitochondrial complex III deficiency |
Variation | info |
Gene | LYRM7 |
CLNDBN | Mitochondrial complex III deficiency, nuclear type 8 |
Reversed | 0 |
HGVS | NC_000005.9:g.130522751_130522753dupTTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208761.1, |