rs200336777
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200336777(A;A) |
Make rs200336777(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 15812 |
Gene | CYTB |
is a | snp |
is | mentioned by |
dbSNP | rs200336777 |
dbSNP (classic) | rs200336777 |
ClinGen | rs200336777 |
ebi | rs200336777 |
HLI | rs200336777 |
Exac | rs200336777 |
Gnomad | rs200336777 |
Varsome | rs200336777 |
LitVar | rs200336777 |
Map | rs200336777 |
PheGenI | rs200336777 |
Biobank | rs200336777 |
1000 genomes | rs200336777 |
hgdp | rs200336777 |
ensembl | rs200336777 |
geneview | rs200336777 |
scholar | rs200336777 |
rs200336777 | |
pharmgkb | rs200336777 |
gwascentral | rs200336777 |
openSNP | rs200336777 |
23andMe | rs200336777 |
SNPshot | rs200336777 |
SNPdbe | rs200336777 |
MSV3d | rs200336777 |
GWAS Ctlg | rs200336777 |
GMAF | 0.005613 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200336777(A;A) |
Alt | rs200336777(A;A) |
Reference | Rs200336777(G;G) |
Significance | Pathogenic |
Disease | Leber's optic atrophy |
Variation | info |
Gene | CYTB |
CLNDBN | Leber's optic atrophy |
Reversed | 0 |
HGVS | NC_012920.1:m.15812G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010313.4, |