rs587776437
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776437(C;C) |
Make rs587776437(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 9478 |
Gene | COX3 |
is a | snp |
is | mentioned by |
dbSNP | rs587776437 |
dbSNP (classic) | rs587776437 |
ClinGen | rs587776437 |
ebi | rs587776437 |
HLI | rs587776437 |
Exac | rs587776437 |
Gnomad | rs587776437 |
Varsome | rs587776437 |
LitVar | rs587776437 |
Map | rs587776437 |
PheGenI | rs587776437 |
Biobank | rs587776437 |
1000 genomes | rs587776437 |
hgdp | rs587776437 |
ensembl | rs587776437 |
geneview | rs587776437 |
scholar | rs587776437 |
rs587776437 | |
pharmgkb | rs587776437 |
gwascentral | rs587776437 |
openSNP | rs587776437 |
23andMe | rs587776437 |
SNPshot | rs587776437 |
SNPdbe | rs587776437 |
MSV3d | rs587776437 |
GWAS Ctlg | rs587776437 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776437(C;C) |
Alt | rs587776437(C;C) |
Reference | Rs587776437(T;T) |
Significance | Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | COX3 |
CLNDBN | Leigh syndrome |
Reversed | 0 |
HGVS | NC_012920.1:m.9478T>C |
CLNSRC | |
CLNACC | RCV000144007.2, |