rs200855215
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs200855215(A;G) |
Make rs200855215(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 13637 |
Gene | ND5 |
is a | snp |
is | mentioned by |
dbSNP | rs200855215 |
dbSNP (classic) | rs200855215 |
ClinGen | rs200855215 |
ebi | rs200855215 |
HLI | rs200855215 |
Exac | rs200855215 |
Gnomad | rs200855215 |
Varsome | rs200855215 |
LitVar | rs200855215 |
Map | rs200855215 |
PheGenI | rs200855215 |
Biobank | rs200855215 |
1000 genomes | rs200855215 |
hgdp | rs200855215 |
ensembl | rs200855215 |
geneview | rs200855215 |
scholar | rs200855215 |
rs200855215 | |
pharmgkb | rs200855215 |
gwascentral | rs200855215 |
openSNP | rs200855215 |
23andMe | rs200855215 |
SNPshot | rs200855215 |
SNPdbe | rs200855215 |
MSV3d | rs200855215 |
GWAS Ctlg | rs200855215 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200855215(G;G) |
Alt | rs200855215(G;G) |
Reference | Rs200855215(A;A) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | ND5 |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.13637A>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000055699.1, |