rs587776443
From SNPedia
Merged into | rs369202065 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587776443(C;C) |
Make rs587776443(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 8839 |
Gene | MT-ATP6 |
is a | snp |
is | mentioned by |
dbSNP | rs587776443 |
dbSNP (classic) | rs587776443 |
ClinGen | rs587776443 |
ebi | rs587776443 |
HLI | rs587776443 |
Exac | rs587776443 |
Gnomad | rs587776443 |
Varsome | rs587776443 |
LitVar | rs587776443 |
Map | rs587776443 |
PheGenI | rs587776443 |
Biobank | rs587776443 |
1000 genomes | rs587776443 |
hgdp | rs587776443 |
ensembl | rs587776443 |
geneview | rs587776443 |
scholar | rs587776443 |
rs587776443 | |
pharmgkb | rs587776443 |
gwascentral | rs587776443 |
openSNP | rs587776443 |
23andMe | rs587776443 |
SNPshot | rs587776443 |
SNPdbe | rs587776443 |
MSV3d | rs587776443 |
GWAS Ctlg | rs587776443 |
Status | Merged into rs369202065 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776443(C;C) |
Alt | rs587776443(C;C) |
Reference | Rs587776443(G;G) |
Significance | Pathogenic |
Disease | Leigh's disease |
Variation | info |
Gene | ATP6 |
CLNDBN | Leigh's disease |
Reversed | 0 |
HGVS | NC_012920.1:m.8839G>C |
CLNSRC | |
CLNACC | RCV000144024.2, |