rs397507451
From SNPedia
Merged into | rs386829069 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397507451(C;C) |
Make rs397507451(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 9191 |
Gene | MT-ATP6 |
is a | snp |
is | mentioned by |
dbSNP | rs397507451 |
dbSNP (classic) | rs397507451 |
ClinGen | rs397507451 |
ebi | rs397507451 |
HLI | rs397507451 |
Exac | rs397507451 |
Gnomad | rs397507451 |
Varsome | rs397507451 |
LitVar | rs397507451 |
Map | rs397507451 |
PheGenI | rs397507451 |
Biobank | rs397507451 |
1000 genomes | rs397507451 |
hgdp | rs397507451 |
ensembl | rs397507451 |
geneview | rs397507451 |
scholar | rs397507451 |
rs397507451 | |
pharmgkb | rs397507451 |
gwascentral | rs397507451 |
openSNP | rs397507451 |
23andMe | rs397507451 |
SNPshot | rs397507451 |
SNPdbe | rs397507451 |
MSV3d | rs397507451 |
GWAS Ctlg | rs397507451 |
Status | Merged into rs386829069 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507451(C;C) |
Alt | rs397507451(C;C) |
Reference | Rs397507451(T;T) |
Significance | Pathogenic |
Disease | Leigh's disease |
Variation | info |
Gene | ATP6 |
CLNDBN | Leigh's disease |
Reversed | 0 |
HGVS | NC_012920.1:m.9191T>C |
CLNSRC | ClinVar GTR |
CLNACC | RCV000144006.2, |