rs146440690
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146440690(G;T) |
Make rs146440690(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 234374366 |
Gene | COA6, LOC101927765 |
is a | snp |
is | mentioned by |
dbSNP | rs146440690 |
dbSNP (classic) | rs146440690 |
ClinGen | rs146440690 |
ebi | rs146440690 |
HLI | rs146440690 |
Exac | rs146440690 |
Gnomad | rs146440690 |
Varsome | rs146440690 |
LitVar | rs146440690 |
Map | rs146440690 |
PheGenI | rs146440690 |
Biobank | rs146440690 |
1000 genomes | rs146440690 |
hgdp | rs146440690 |
ensembl | rs146440690 |
geneview | rs146440690 |
scholar | rs146440690 |
rs146440690 | |
pharmgkb | rs146440690 |
gwascentral | rs146440690 |
openSNP | rs146440690 |
23andMe | rs146440690 |
SNPshot | rs146440690 |
SNPdbe | rs146440690 |
MSV3d | rs146440690 |
GWAS Ctlg | rs146440690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146440690(T;T) |
Alt | rs146440690(T;T) |
Reference | Rs146440690(G;G) |
Significance | Pathogenic |
Disease | Cardioencephalomyopathy |
Variation | info |
Gene | COA6 LOC101927765 |
CLNDBN | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.234510112G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000133544.5, |