rs869025186
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs869025186(C;C) |
Make rs869025186(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 14498 |
Gene | ND6 |
is a | snp |
is | mentioned by |
dbSNP | rs869025186 |
dbSNP (classic) | rs869025186 |
ClinGen | rs869025186 |
ebi | rs869025186 |
HLI | rs869025186 |
Exac | rs869025186 |
Gnomad | rs869025186 |
Varsome | rs869025186 |
LitVar | rs869025186 |
Map | rs869025186 |
PheGenI | rs869025186 |
Biobank | rs869025186 |
1000 genomes | rs869025186 |
hgdp | rs869025186 |
ensembl | rs869025186 |
geneview | rs869025186 |
scholar | rs869025186 |
rs869025186 | |
pharmgkb | rs869025186 |
gwascentral | rs869025186 |
openSNP | rs869025186 |
23andMe | rs869025186 |
SNPshot | rs869025186 |
SNPdbe | rs869025186 |
MSV3d | rs869025186 |
GWAS Ctlg | rs869025186 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025186(C;C) |
Alt | rs869025186(C;C) |
Reference | Rs869025186(T;T) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND6 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.14498T>C |
CLNSRC | |
CLNACC | RCV000055702.1, |