rs200873900
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200873900(A;A) |
Make rs200873900(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 11696 |
Gene | ND4 |
is a | snp |
is | mentioned by |
dbSNP | rs200873900 |
dbSNP (classic) | rs200873900 |
ClinGen | rs200873900 |
ebi | rs200873900 |
HLI | rs200873900 |
Exac | rs200873900 |
Gnomad | rs200873900 |
Varsome | rs200873900 |
LitVar | rs200873900 |
Map | rs200873900 |
PheGenI | rs200873900 |
Biobank | rs200873900 |
1000 genomes | rs200873900 |
hgdp | rs200873900 |
ensembl | rs200873900 |
geneview | rs200873900 |
scholar | rs200873900 |
rs200873900 | |
pharmgkb | rs200873900 |
gwascentral | rs200873900 |
openSNP | rs200873900 |
23andMe | rs200873900 |
SNPshot | rs200873900 |
SNPdbe | rs200873900 |
MSV3d | rs200873900 |
GWAS Ctlg | rs200873900 |
GMAF | 0.008419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200873900(A;A) |
Alt | rs200873900(A;A) |
Reference | Rs200873900(G;G) |
Significance | Pathogenic |
Disease | Leber hereditary optic neuropathy with dystonia Leber's optic atrophy |
Variation | info |
Gene | ND4 |
CLNDBN | Leber hereditary optic neuropathy with dystonia Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.11696G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010356.2, RCV000055697.1, |