rs776838028
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs776838028(C;T) |
Make rs776838028(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 218661896 |
Gene | BCS1L |
is a | snp |
is | mentioned by |
dbSNP | rs776838028 |
dbSNP (classic) | rs776838028 |
ClinGen | rs776838028 |
ebi | rs776838028 |
HLI | rs776838028 |
Exac | rs776838028 |
Gnomad | rs776838028 |
Varsome | rs776838028 |
LitVar | rs776838028 |
Map | rs776838028 |
PheGenI | rs776838028 |
Biobank | rs776838028 |
1000 genomes | rs776838028 |
hgdp | rs776838028 |
ensembl | rs776838028 |
geneview | rs776838028 |
scholar | rs776838028 |
rs776838028 | |
pharmgkb | rs776838028 |
gwascentral | rs776838028 |
openSNP | rs776838028 |
23andMe | rs776838028 |
SNPshot | rs776838028 |
SNPdbe | rs776838028 |
MSV3d | rs776838028 |
GWAS Ctlg | rs776838028 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs776838028(T;T) |
Alt | rs776838028(T;T) |
Reference | Rs776838028(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial complex III deficiency |
Variation | info |
Gene | BCS1L |
CLNDBN | Mitochondrial complex III deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.219526619C>T |
CLNSRC | |
CLNACC | RCV000415338.1, |