rs144885874
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144885874(C;T) |
Make rs144885874(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 218661845 |
Gene | BCS1L |
is a | snp |
is | mentioned by |
dbSNP | rs144885874 |
dbSNP (classic) | rs144885874 |
ClinGen | rs144885874 |
ebi | rs144885874 |
HLI | rs144885874 |
Exac | rs144885874 |
Gnomad | rs144885874 |
Varsome | rs144885874 |
LitVar | rs144885874 |
Map | rs144885874 |
PheGenI | rs144885874 |
Biobank | rs144885874 |
1000 genomes | rs144885874 |
hgdp | rs144885874 |
ensembl | rs144885874 |
geneview | rs144885874 |
scholar | rs144885874 |
rs144885874 | |
pharmgkb | rs144885874 |
gwascentral | rs144885874 |
openSNP | rs144885874 |
23andMe | rs144885874 |
SNPshot | rs144885874 |
SNPdbe | rs144885874 |
MSV3d | rs144885874 |
GWAS Ctlg | rs144885874 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144885874(T;T) |
Alt | rs144885874(T;T) |
Reference | Rs144885874(C;C) |
Significance | Other |
Disease | Mitochondrial complex III deficiency |
Variation | info |
Gene | BCS1L |
CLNDBN | Mitochondrial complex III deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.219526568C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006550.4, |