rs369202065
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs369202065(C;C) |
Make rs369202065(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 8839 |
Gene | ATP6 |
is a | snp |
is | mentioned by |
dbSNP | rs369202065 |
dbSNP (classic) | rs369202065 |
ClinGen | rs369202065 |
ebi | rs369202065 |
HLI | rs369202065 |
Exac | rs369202065 |
Gnomad | rs369202065 |
Varsome | rs369202065 |
LitVar | rs369202065 |
Map | rs369202065 |
PheGenI | rs369202065 |
Biobank | rs369202065 |
1000 genomes | rs369202065 |
hgdp | rs369202065 |
ensembl | rs369202065 |
geneview | rs369202065 |
scholar | rs369202065 |
rs369202065 | |
pharmgkb | rs369202065 |
gwascentral | rs369202065 |
openSNP | rs369202065 |
23andMe | rs369202065 |
SNPshot | rs369202065 |
SNPdbe | rs369202065 |
MSV3d | rs369202065 |
GWAS Ctlg | rs369202065 |
Merged from | Rs587776443 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369202065(A;A) rs369202065(C;C) |
Alt | rs369202065(A;A) rs369202065(C;C) |
Reference | Rs369202065(G;G) |
Significance | Pathogenic |
Disease | Leigh syndrome |
Variation | info |
Gene | ATP6 |
CLNDBN | Leigh syndrome |
Reversed | 0 |
HGVS | NC_012920.1:m.8839G>C |
CLNSRC | |
CLNACC | RCV000144024.2, |