rs201863060
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs201863060(C;C) |
Make rs201863060(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 12338 |
Gene | ND5 |
is a | snp |
is | mentioned by |
dbSNP | rs201863060 |
dbSNP (classic) | rs201863060 |
ClinGen | rs201863060 |
ebi | rs201863060 |
HLI | rs201863060 |
Exac | rs201863060 |
Gnomad | rs201863060 |
Varsome | rs201863060 |
LitVar | rs201863060 |
Map | rs201863060 |
PheGenI | rs201863060 |
Biobank | rs201863060 |
1000 genomes | rs201863060 |
hgdp | rs201863060 |
ensembl | rs201863060 |
geneview | rs201863060 |
scholar | rs201863060 |
rs201863060 | |
pharmgkb | rs201863060 |
gwascentral | rs201863060 |
openSNP | rs201863060 |
23andMe | rs201863060 |
SNPshot | rs201863060 |
SNPdbe | rs201863060 |
MSV3d | rs201863060 |
GWAS Ctlg | rs201863060 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201863060(C;C) |
Alt | rs201863060(C;C) |
Reference | Rs201863060(T;T) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND5 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.12338T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022893.4, |