rs797045055
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs797045055(A;G) |
Make rs797045055(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 14597 |
Gene | ND6 |
is a | snp |
is | mentioned by |
dbSNP | rs797045055 |
dbSNP (classic) | rs797045055 |
ClinGen | rs797045055 |
ebi | rs797045055 |
HLI | rs797045055 |
Exac | rs797045055 |
Gnomad | rs797045055 |
Varsome | rs797045055 |
LitVar | rs797045055 |
Map | rs797045055 |
PheGenI | rs797045055 |
Biobank | rs797045055 |
1000 genomes | rs797045055 |
hgdp | rs797045055 |
ensembl | rs797045055 |
geneview | rs797045055 |
scholar | rs797045055 |
rs797045055 | |
pharmgkb | rs797045055 |
gwascentral | rs797045055 |
openSNP | rs797045055 |
23andMe | rs797045055 |
SNPshot | rs797045055 |
SNPdbe | rs797045055 |
MSV3d | rs797045055 |
GWAS Ctlg | rs797045055 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045055(G;G) |
Alt | rs797045055(G;G) |
Reference | Rs797045055(A;A) |
Significance | Probable-Pathogenic |
Disease | Dysarthria Dystonia |
Variation | info |
Gene | ND6 |
CLNDBN | Dysarthria Dystonia |
Reversed | 0 |
HGVS | NC_012920.1:m.14597A>G |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191107.1, |