rs200145866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200145866(C;C) |
Make rs200145866(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 11253 |
Gene | ND4 |
is a | snp |
is | mentioned by |
dbSNP | rs200145866 |
dbSNP (classic) | rs200145866 |
ClinGen | rs200145866 |
ebi | rs200145866 |
HLI | rs200145866 |
Exac | rs200145866 |
Gnomad | rs200145866 |
Varsome | rs200145866 |
LitVar | rs200145866 |
Map | rs200145866 |
PheGenI | rs200145866 |
Biobank | rs200145866 |
1000 genomes | rs200145866 |
hgdp | rs200145866 |
ensembl | rs200145866 |
geneview | rs200145866 |
scholar | rs200145866 |
rs200145866 | |
pharmgkb | rs200145866 |
gwascentral | rs200145866 |
openSNP | rs200145866 |
23andMe | rs200145866 |
SNPshot | rs200145866 |
SNPdbe | rs200145866 |
MSV3d | rs200145866 |
GWAS Ctlg | rs200145866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200145866(C;C) |
Alt | rs200145866(C;C) |
Reference | Rs200145866(T;T) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND4 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.11253T>C |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055696.1, |