rs200613617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200613617(A;A) |
Make rs200613617(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 9804 |
Gene | COX3 |
is a | snp |
is | mentioned by |
dbSNP | rs200613617 |
dbSNP (classic) | rs200613617 |
ClinGen | rs200613617 |
ebi | rs200613617 |
HLI | rs200613617 |
Exac | rs200613617 |
Gnomad | rs200613617 |
Varsome | rs200613617 |
LitVar | rs200613617 |
Map | rs200613617 |
PheGenI | rs200613617 |
Biobank | rs200613617 |
1000 genomes | rs200613617 |
hgdp | rs200613617 |
ensembl | rs200613617 |
geneview | rs200613617 |
scholar | rs200613617 |
rs200613617 | |
pharmgkb | rs200613617 |
gwascentral | rs200613617 |
openSNP | rs200613617 |
23andMe | rs200613617 |
SNPshot | rs200613617 |
SNPdbe | rs200613617 |
MSV3d | rs200613617 |
GWAS Ctlg | rs200613617 |
GMAF | 0.001871 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200613617(A;A) |
Alt | rs200613617(A;A) |
Reference | Rs200613617(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.9804G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010287.2, |