rs267606611
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606611(A;A) |
Make rs267606611(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 9438 |
Gene | COX3 |
is a | snp |
is | mentioned by |
dbSNP | rs267606611 |
dbSNP (classic) | rs267606611 |
ClinGen | rs267606611 |
ebi | rs267606611 |
HLI | rs267606611 |
Exac | rs267606611 |
Gnomad | rs267606611 |
Varsome | rs267606611 |
LitVar | rs267606611 |
Map | rs267606611 |
PheGenI | rs267606611 |
Biobank | rs267606611 |
1000 genomes | rs267606611 |
hgdp | rs267606611 |
ensembl | rs267606611 |
geneview | rs267606611 |
scholar | rs267606611 |
rs267606611 | |
pharmgkb | rs267606611 |
gwascentral | rs267606611 |
openSNP | rs267606611 |
23andMe | rs267606611 |
SNPshot | rs267606611 |
SNPdbe | rs267606611 |
MSV3d | rs267606611 |
GWAS Ctlg | rs267606611 |
GMAF | 0.005613 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606611(A;A) |
Alt | rs267606611(A;A) |
Reference | Rs267606611(G;G) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | COX3 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.9438G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010286.2, |